Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly Article Swipe
Emanuela Salzano
,
Marcello Niceta
,
Simone Pizzi
,
Francesca Clementina Radio
,
Martina Busè
,
Francesca Mercadante
,
Sabina Barresi
,
Arturo Ferrara
,
Cecilia Mancini
,
Marco Tartaglia
,
Maria Piccione
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.3389/fneur.2023.1090082
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.3389/fneur.2023.1090082
Biallelic loss-of-function variants in MED23 cause a recessive syndromic intellectual disability condition with or without epilepsy (MRT18). Due to the small number of reported individuals, the clinical phenotype of the disorder has not been fully delineated yet, and the spectrum and frequency of neurologic features have not been fully characterized. Here, we report a 5-year-old girl with compound heterozygous for two additional MED23 variants. Besides global developmental delay, axial hypotonia and peripheral increased muscular tone, absent speech, and generalized tonic seizures, which fit well MRT18, the occurrence of postnatal progressive microcephaly has been here documented. A retrospective assessment of the previously reported clinical data for these subjects confirms the occurrence of postnatal progressive microcephaly as a previously unappreciated feature of the phenotype of MED23 -related disorder.
Related Topics
Concepts
Microcephaly
Compound heterozygosity
Loss of heterozygosity
Medicine
Genetics
Pediatrics
Biology
Mutation
Gene
Allele
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3389/fneur.2023.1090082
- OA Status
- gold
- Cited By
- 5
- References
- 25
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4319441669
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4319441669Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.3389/fneur.2023.1090082Digital Object Identifier
- Title
-
Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephalyWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-02-07Full publication date if available
- Authors
-
Emanuela Salzano, Marcello Niceta, Simone Pizzi, Francesca Clementina Radio, Martina Busè, Francesca Mercadante, Sabina Barresi, Arturo Ferrara, Cecilia Mancini, Marco Tartaglia, Maria PiccioneList of authors in order
- Landing page
-
https://doi.org/10.3389/fneur.2023.1090082Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.3389/fneur.2023.1090082Direct OA link when available
- Concepts
-
Microcephaly, Compound heterozygosity, Loss of heterozygosity, Medicine, Genetics, Pediatrics, Biology, Mutation, Gene, AlleleTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
5Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 3, 2024: 1, 2023: 1Per-year citation counts (last 5 years)
- References (count)
-
25Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W4319441669 |
|---|---|
| doi | https://doi.org/10.3389/fneur.2023.1090082 |
| ids.doi | https://doi.org/10.3389/fneur.2023.1090082 |
| ids.pmid | https://pubmed.ncbi.nlm.nih.gov/36824420 |
| ids.openalex | https://openalex.org/W4319441669 |
| fwci | 1.79636228 |
| type | article |
| title | Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly |
| biblio.issue | |
| biblio.volume | 14 |
| biblio.last_page | 1090082 |
| biblio.first_page | 1090082 |
| topics[0].id | https://openalex.org/T11642 |
| topics[0].field.id | https://openalex.org/fields/13 |
| topics[0].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[0].score | 0.9993000030517578 |
| topics[0].domain.id | https://openalex.org/domains/1 |
| topics[0].domain.display_name | Life Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/1311 |
| topics[0].subfield.display_name | Genetics |
| topics[0].display_name | Genomics and Rare Diseases |
| topics[1].id | https://openalex.org/T11213 |
| topics[1].field.id | https://openalex.org/fields/13 |
| topics[1].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[1].score | 0.991100013256073 |
| topics[1].domain.id | https://openalex.org/domains/1 |
| topics[1].domain.display_name | Life Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/1311 |
| topics[1].subfield.display_name | Genetics |
| topics[1].display_name | Genomic variations and chromosomal abnormalities |
| topics[2].id | https://openalex.org/T11772 |
| topics[2].field.id | https://openalex.org/fields/13 |
| topics[2].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[2].score | 0.9876000285148621 |
| topics[2].domain.id | https://openalex.org/domains/1 |
| topics[2].domain.display_name | Life Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/1311 |
| topics[2].subfield.display_name | Genetics |
| topics[2].display_name | Genetics and Neurodevelopmental Disorders |
| funders[0].id | https://openalex.org/F4320311419 |
| funders[0].ror | |
| funders[0].display_name | Ministry of Health |
| funders[1].id | https://openalex.org/F4320330160 |
| funders[1].ror | |
| funders[1].display_name | Fondazione Bambino Gesù |
| is_xpac | False |
| apc_list.value | 2950 |
| apc_list.currency | USD |
| apc_list.value_usd | 2950 |
| apc_paid.value | 2950 |
| apc_paid.currency | USD |
| apc_paid.value_usd | 2950 |
| concepts[0].id | https://openalex.org/C2776395126 |
| concepts[0].level | 2 |
| concepts[0].score | 0.8718916177749634 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q431643 |
| concepts[0].display_name | Microcephaly |
| concepts[1].id | https://openalex.org/C12125453 |
| concepts[1].level | 4 |
| concepts[1].score | 0.8400921821594238 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q5156837 |
| concepts[1].display_name | Compound heterozygosity |
| concepts[2].id | https://openalex.org/C143589142 |
| concepts[2].level | 4 |
| concepts[2].score | 0.6002863049507141 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q2617554 |
| concepts[2].display_name | Loss of heterozygosity |
| concepts[3].id | https://openalex.org/C71924100 |
| concepts[3].level | 0 |
| concepts[3].score | 0.47385314106941223 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q11190 |
| concepts[3].display_name | Medicine |
| concepts[4].id | https://openalex.org/C54355233 |
| concepts[4].level | 1 |
| concepts[4].score | 0.45995983481407166 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[4].display_name | Genetics |
| concepts[5].id | https://openalex.org/C187212893 |
| concepts[5].level | 1 |
| concepts[5].score | 0.3455992341041565 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q123028 |
| concepts[5].display_name | Pediatrics |
| concepts[6].id | https://openalex.org/C86803240 |
| concepts[6].level | 0 |
| concepts[6].score | 0.3389729857444763 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[6].display_name | Biology |
| concepts[7].id | https://openalex.org/C501734568 |
| concepts[7].level | 3 |
| concepts[7].score | 0.25340932607650757 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q42918 |
| concepts[7].display_name | Mutation |
| concepts[8].id | https://openalex.org/C104317684 |
| concepts[8].level | 2 |
| concepts[8].score | 0.11184176802635193 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[8].display_name | Gene |
| concepts[9].id | https://openalex.org/C180754005 |
| concepts[9].level | 3 |
| concepts[9].score | 0.07433751225471497 |
| concepts[9].wikidata | https://www.wikidata.org/wiki/Q80726 |
| concepts[9].display_name | Allele |
| keywords[0].id | https://openalex.org/keywords/microcephaly |
| keywords[0].score | 0.8718916177749634 |
| keywords[0].display_name | Microcephaly |
| keywords[1].id | https://openalex.org/keywords/compound-heterozygosity |
| keywords[1].score | 0.8400921821594238 |
| keywords[1].display_name | Compound heterozygosity |
| keywords[2].id | https://openalex.org/keywords/loss-of-heterozygosity |
| keywords[2].score | 0.6002863049507141 |
| keywords[2].display_name | Loss of heterozygosity |
| keywords[3].id | https://openalex.org/keywords/medicine |
| keywords[3].score | 0.47385314106941223 |
| keywords[3].display_name | Medicine |
| keywords[4].id | https://openalex.org/keywords/genetics |
| keywords[4].score | 0.45995983481407166 |
| keywords[4].display_name | Genetics |
| keywords[5].id | https://openalex.org/keywords/pediatrics |
| keywords[5].score | 0.3455992341041565 |
| keywords[5].display_name | Pediatrics |
| keywords[6].id | https://openalex.org/keywords/biology |
| keywords[6].score | 0.3389729857444763 |
| keywords[6].display_name | Biology |
| keywords[7].id | https://openalex.org/keywords/mutation |
| keywords[7].score | 0.25340932607650757 |
| keywords[7].display_name | Mutation |
| keywords[8].id | https://openalex.org/keywords/gene |
| keywords[8].score | 0.11184176802635193 |
| keywords[8].display_name | Gene |
| keywords[9].id | https://openalex.org/keywords/allele |
| keywords[9].score | 0.07433751225471497 |
| keywords[9].display_name | Allele |
| language | en |
| locations[0].id | doi:10.3389/fneur.2023.1090082 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S96975567 |
| locations[0].source.issn | 1664-2295 |
| locations[0].source.type | journal |
| locations[0].source.is_oa | True |
| locations[0].source.issn_l | 1664-2295 |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | True |
| locations[0].source.display_name | Frontiers in Neurology |
| locations[0].source.host_organization | https://openalex.org/P4310320527 |
| locations[0].source.host_organization_name | Frontiers Media |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310320527 |
| locations[0].source.host_organization_lineage_names | Frontiers Media |
| locations[0].license | cc-by |
| locations[0].pdf_url | |
| locations[0].version | publishedVersion |
| locations[0].raw_type | journal-article |
| locations[0].license_id | https://openalex.org/licenses/cc-by |
| locations[0].is_accepted | True |
| locations[0].is_published | True |
| locations[0].raw_source_name | Frontiers in Neurology |
| locations[0].landing_page_url | https://doi.org/10.3389/fneur.2023.1090082 |
| locations[1].id | pmid:36824420 |
| locations[1].is_oa | False |
| locations[1].source.id | https://openalex.org/S4306525036 |
| locations[1].source.issn | |
| locations[1].source.type | repository |
| locations[1].source.is_oa | False |
| locations[1].source.issn_l | |
| locations[1].source.is_core | False |
| locations[1].source.is_in_doaj | False |
| locations[1].source.display_name | PubMed |
| locations[1].source.host_organization | https://openalex.org/I1299303238 |
| locations[1].source.host_organization_name | National Institutes of Health |
| locations[1].source.host_organization_lineage | https://openalex.org/I1299303238 |
| locations[1].license | |
| locations[1].pdf_url | |
| locations[1].version | publishedVersion |
| locations[1].raw_type | |
| locations[1].license_id | |
| locations[1].is_accepted | True |
| locations[1].is_published | True |
| locations[1].raw_source_name | Frontiers in neurology |
| locations[1].landing_page_url | https://pubmed.ncbi.nlm.nih.gov/36824420 |
| locations[2].id | pmh:oai:doaj.org/article:01b5006b5d1d4f268118e73c35d37a3b |
| locations[2].is_oa | False |
| locations[2].source.id | https://openalex.org/S4306401280 |
| locations[2].source.issn | |
| locations[2].source.type | repository |
| locations[2].source.is_oa | False |
| locations[2].source.issn_l | |
| locations[2].source.is_core | False |
| locations[2].source.is_in_doaj | False |
| locations[2].source.display_name | DOAJ (DOAJ: Directory of Open Access Journals) |
| locations[2].source.host_organization | |
| locations[2].source.host_organization_name | |
| locations[2].license | |
| locations[2].pdf_url | |
| locations[2].version | submittedVersion |
| locations[2].raw_type | article |
| locations[2].license_id | |
| locations[2].is_accepted | False |
| locations[2].is_published | False |
| locations[2].raw_source_name | Frontiers in Neurology, Vol 14 (2023) |
| locations[2].landing_page_url | https://doaj.org/article/01b5006b5d1d4f268118e73c35d37a3b |
| locations[3].id | pmh:oai:iris.unipa.it:10447/582571 |
| locations[3].is_oa | True |
| locations[3].source.id | https://openalex.org/S4306401065 |
| locations[3].source.issn | |
| locations[3].source.type | repository |
| locations[3].source.is_oa | False |
| locations[3].source.issn_l | |
| locations[3].source.is_core | False |
| locations[3].source.is_in_doaj | False |
| locations[3].source.display_name | Nova Science Publishers (Nova Science Publishers, Inc.) |
| locations[3].source.host_organization | |
| locations[3].source.host_organization_name | |
| locations[3].license | other-oa |
| locations[3].pdf_url | |
| locations[3].version | submittedVersion |
| locations[3].raw_type | info:eu-repo/semantics/article |
| locations[3].license_id | https://openalex.org/licenses/other-oa |
| locations[3].is_accepted | False |
| locations[3].is_published | False |
| locations[3].raw_source_name | |
| locations[3].landing_page_url | https://hdl.handle.net/10447/582571 |
| locations[4].id | pmh:oai:pubmedcentral.nih.gov:9941528 |
| locations[4].is_oa | True |
| locations[4].source.id | https://openalex.org/S2764455111 |
| locations[4].source.issn | |
| locations[4].source.type | repository |
| locations[4].source.is_oa | False |
| locations[4].source.issn_l | |
| locations[4].source.is_core | False |
| locations[4].source.is_in_doaj | False |
| locations[4].source.display_name | PubMed Central |
| locations[4].source.host_organization | https://openalex.org/I1299303238 |
| locations[4].source.host_organization_name | National Institutes of Health |
| locations[4].source.host_organization_lineage | https://openalex.org/I1299303238 |
| locations[4].license | other-oa |
| locations[4].pdf_url | |
| locations[4].version | submittedVersion |
| locations[4].raw_type | Text |
| locations[4].license_id | https://openalex.org/licenses/other-oa |
| locations[4].is_accepted | False |
| locations[4].is_published | False |
| locations[4].raw_source_name | Front Neurol |
| locations[4].landing_page_url | https://www.ncbi.nlm.nih.gov/pmc/articles/9941528 |
| indexed_in | crossref, doaj, pubmed |
| authorships[0].author.id | https://openalex.org/A5044400012 |
| authorships[0].author.orcid | https://orcid.org/0000-0002-5003-1396 |
| authorships[0].author.display_name | Emanuela Salzano |
| authorships[0].countries | IT |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I4210099059 |
| authorships[0].affiliations[0].raw_affiliation_string | Medical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy |
| authorships[0].institutions[0].id | https://openalex.org/I4210099059 |
| authorships[0].institutions[0].ror | https://ror.org/00twmyj12 |
| authorships[0].institutions[0].type | healthcare |
| authorships[0].institutions[0].lineage | https://openalex.org/I4210099059 |
| authorships[0].institutions[0].country_code | IT |
| authorships[0].institutions[0].display_name | Ospedale Vincenzo Cervello |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Emanuela Salzano |
| authorships[0].is_corresponding | True |
| authorships[0].raw_affiliation_strings | Medical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy |
| authorships[1].author.id | https://openalex.org/A5002158250 |
| authorships[1].author.orcid | https://orcid.org/0000-0003-4766-7753 |
| authorships[1].author.display_name | Marcello Niceta |
| authorships[1].countries | IT |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I4210123352, https://openalex.org/I4210153126 |
| authorships[1].affiliations[0].raw_affiliation_string | Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy |
| authorships[1].institutions[0].id | https://openalex.org/I4210123352 |
| authorships[1].institutions[0].ror | https://ror.org/02sy42d13 |
| authorships[1].institutions[0].type | healthcare |
| authorships[1].institutions[0].lineage | https://openalex.org/I4210123352, https://openalex.org/I4210153126 |
| authorships[1].institutions[0].country_code | IT |
| authorships[1].institutions[0].display_name | Bambino Gesù Children's Hospital |
| authorships[1].institutions[1].id | https://openalex.org/I4210153126 |
| authorships[1].institutions[1].ror | https://ror.org/04tfzc498 |
| authorships[1].institutions[1].type | healthcare |
| authorships[1].institutions[1].lineage | https://openalex.org/I4210153126 |
| authorships[1].institutions[1].country_code | IT |
| authorships[1].institutions[1].display_name | Istituti di Ricovero e Cura a Carattere Scientifico |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Marcello Niceta |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy |
| authorships[2].author.id | https://openalex.org/A5028565846 |
| authorships[2].author.orcid | https://orcid.org/0000-0002-6227-6788 |
| authorships[2].author.display_name | Simone Pizzi |
| authorships[2].countries | IT |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I4210123352, https://openalex.org/I4210153126 |
| authorships[2].affiliations[0].raw_affiliation_string | Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy |
| authorships[2].institutions[0].id | https://openalex.org/I4210123352 |
| authorships[2].institutions[0].ror | https://ror.org/02sy42d13 |
| authorships[2].institutions[0].type | healthcare |
| authorships[2].institutions[0].lineage | https://openalex.org/I4210123352, https://openalex.org/I4210153126 |
| authorships[2].institutions[0].country_code | IT |
| authorships[2].institutions[0].display_name | Bambino Gesù Children's Hospital |
| authorships[2].institutions[1].id | https://openalex.org/I4210153126 |
| authorships[2].institutions[1].ror | https://ror.org/04tfzc498 |
| authorships[2].institutions[1].type | healthcare |
| authorships[2].institutions[1].lineage | https://openalex.org/I4210153126 |
| authorships[2].institutions[1].country_code | IT |
| authorships[2].institutions[1].display_name | Istituti di Ricovero e Cura a Carattere Scientifico |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Simone Pizzi |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy |
| authorships[3].author.id | https://openalex.org/A5060795200 |
| authorships[3].author.orcid | https://orcid.org/0000-0003-1993-8018 |
| authorships[3].author.display_name | Francesca Clementina Radio |
| authorships[3].countries | IT |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I4210123352, https://openalex.org/I4210153126 |
| authorships[3].affiliations[0].raw_affiliation_string | Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy |
| authorships[3].institutions[0].id | https://openalex.org/I4210123352 |
| authorships[3].institutions[0].ror | https://ror.org/02sy42d13 |
| authorships[3].institutions[0].type | healthcare |
| authorships[3].institutions[0].lineage | https://openalex.org/I4210123352, https://openalex.org/I4210153126 |
| authorships[3].institutions[0].country_code | IT |
| authorships[3].institutions[0].display_name | Bambino Gesù Children's Hospital |
| authorships[3].institutions[1].id | https://openalex.org/I4210153126 |
| authorships[3].institutions[1].ror | https://ror.org/04tfzc498 |
| authorships[3].institutions[1].type | healthcare |
| authorships[3].institutions[1].lineage | https://openalex.org/I4210153126 |
| authorships[3].institutions[1].country_code | IT |
| authorships[3].institutions[1].display_name | Istituti di Ricovero e Cura a Carattere Scientifico |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Francesca Clementina Radio |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy |
| authorships[4].author.id | https://openalex.org/A5061375266 |
| authorships[4].author.orcid | https://orcid.org/0000-0003-0825-9159 |
| authorships[4].author.display_name | Martina Busè |
| authorships[4].countries | IT |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I4210099059 |
| authorships[4].affiliations[0].raw_affiliation_string | Medical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy |
| authorships[4].institutions[0].id | https://openalex.org/I4210099059 |
| authorships[4].institutions[0].ror | https://ror.org/00twmyj12 |
| authorships[4].institutions[0].type | healthcare |
| authorships[4].institutions[0].lineage | https://openalex.org/I4210099059 |
| authorships[4].institutions[0].country_code | IT |
| authorships[4].institutions[0].display_name | Ospedale Vincenzo Cervello |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Martina Busè |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | Medical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy |
| authorships[5].author.id | https://openalex.org/A5050000650 |
| authorships[5].author.orcid | https://orcid.org/0000-0002-6914-1261 |
| authorships[5].author.display_name | Francesca Mercadante |
| authorships[5].countries | IT |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I4210099059 |
| authorships[5].affiliations[0].raw_affiliation_string | Medical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy |
| authorships[5].institutions[0].id | https://openalex.org/I4210099059 |
| authorships[5].institutions[0].ror | https://ror.org/00twmyj12 |
| authorships[5].institutions[0].type | healthcare |
| authorships[5].institutions[0].lineage | https://openalex.org/I4210099059 |
| authorships[5].institutions[0].country_code | IT |
| authorships[5].institutions[0].display_name | Ospedale Vincenzo Cervello |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Francesca Mercadante |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | Medical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy |
| authorships[6].author.id | https://openalex.org/A5056587668 |
| authorships[6].author.orcid | https://orcid.org/0000-0002-7307-388X |
| authorships[6].author.display_name | Sabina Barresi |
| authorships[6].countries | IT |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I4210123352, https://openalex.org/I4210153126 |
| authorships[6].affiliations[0].raw_affiliation_string | Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy |
| authorships[6].institutions[0].id | https://openalex.org/I4210123352 |
| authorships[6].institutions[0].ror | https://ror.org/02sy42d13 |
| authorships[6].institutions[0].type | healthcare |
| authorships[6].institutions[0].lineage | https://openalex.org/I4210123352, https://openalex.org/I4210153126 |
| authorships[6].institutions[0].country_code | IT |
| authorships[6].institutions[0].display_name | Bambino Gesù Children's Hospital |
| authorships[6].institutions[1].id | https://openalex.org/I4210153126 |
| authorships[6].institutions[1].ror | https://ror.org/04tfzc498 |
| authorships[6].institutions[1].type | healthcare |
| authorships[6].institutions[1].lineage | https://openalex.org/I4210153126 |
| authorships[6].institutions[1].country_code | IT |
| authorships[6].institutions[1].display_name | Istituti di Ricovero e Cura a Carattere Scientifico |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Sabina Barresi |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy |
| authorships[7].author.id | https://openalex.org/A5031243340 |
| authorships[7].author.orcid | |
| authorships[7].author.display_name | Arturo Ferrara |
| authorships[7].countries | IT |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I4210099059 |
| authorships[7].affiliations[0].raw_affiliation_string | Medical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy |
| authorships[7].institutions[0].id | https://openalex.org/I4210099059 |
| authorships[7].institutions[0].ror | https://ror.org/00twmyj12 |
| authorships[7].institutions[0].type | healthcare |
| authorships[7].institutions[0].lineage | https://openalex.org/I4210099059 |
| authorships[7].institutions[0].country_code | IT |
| authorships[7].institutions[0].display_name | Ospedale Vincenzo Cervello |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Arturo Ferrara |
| authorships[7].is_corresponding | False |
| authorships[7].raw_affiliation_strings | Medical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy |
| authorships[8].author.id | https://openalex.org/A5040600751 |
| authorships[8].author.orcid | https://orcid.org/0000-0003-1282-0404 |
| authorships[8].author.display_name | Cecilia Mancini |
| authorships[8].countries | IT |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I4210123352, https://openalex.org/I4210153126 |
| authorships[8].affiliations[0].raw_affiliation_string | Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy |
| authorships[8].institutions[0].id | https://openalex.org/I4210123352 |
| authorships[8].institutions[0].ror | https://ror.org/02sy42d13 |
| authorships[8].institutions[0].type | healthcare |
| authorships[8].institutions[0].lineage | https://openalex.org/I4210123352, https://openalex.org/I4210153126 |
| authorships[8].institutions[0].country_code | IT |
| authorships[8].institutions[0].display_name | Bambino Gesù Children's Hospital |
| authorships[8].institutions[1].id | https://openalex.org/I4210153126 |
| authorships[8].institutions[1].ror | https://ror.org/04tfzc498 |
| authorships[8].institutions[1].type | healthcare |
| authorships[8].institutions[1].lineage | https://openalex.org/I4210153126 |
| authorships[8].institutions[1].country_code | IT |
| authorships[8].institutions[1].display_name | Istituti di Ricovero e Cura a Carattere Scientifico |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | Cecilia Mancini |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy |
| authorships[9].author.id | https://openalex.org/A5048934823 |
| authorships[9].author.orcid | https://orcid.org/0000-0001-7736-9672 |
| authorships[9].author.display_name | Marco Tartaglia |
| authorships[9].countries | IT |
| authorships[9].affiliations[0].institution_ids | https://openalex.org/I4210123352, https://openalex.org/I4210153126 |
| authorships[9].affiliations[0].raw_affiliation_string | Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy |
| authorships[9].institutions[0].id | https://openalex.org/I4210123352 |
| authorships[9].institutions[0].ror | https://ror.org/02sy42d13 |
| authorships[9].institutions[0].type | healthcare |
| authorships[9].institutions[0].lineage | https://openalex.org/I4210123352, https://openalex.org/I4210153126 |
| authorships[9].institutions[0].country_code | IT |
| authorships[9].institutions[0].display_name | Bambino Gesù Children's Hospital |
| authorships[9].institutions[1].id | https://openalex.org/I4210153126 |
| authorships[9].institutions[1].ror | https://ror.org/04tfzc498 |
| authorships[9].institutions[1].type | healthcare |
| authorships[9].institutions[1].lineage | https://openalex.org/I4210153126 |
| authorships[9].institutions[1].country_code | IT |
| authorships[9].institutions[1].display_name | Istituti di Ricovero e Cura a Carattere Scientifico |
| authorships[9].author_position | middle |
| authorships[9].raw_author_name | Marco Tartaglia |
| authorships[9].is_corresponding | False |
| authorships[9].raw_affiliation_strings | Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy |
| authorships[10].author.id | https://openalex.org/A5082482773 |
| authorships[10].author.orcid | https://orcid.org/0000-0001-6053-7000 |
| authorships[10].author.display_name | Maria Piccione |
| authorships[10].countries | IT |
| authorships[10].affiliations[0].institution_ids | https://openalex.org/I4210099059 |
| authorships[10].affiliations[0].raw_affiliation_string | Medical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy |
| authorships[10].affiliations[1].institution_ids | https://openalex.org/I900890020 |
| authorships[10].affiliations[1].raw_affiliation_string | Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy |
| authorships[10].institutions[0].id | https://openalex.org/I4210099059 |
| authorships[10].institutions[0].ror | https://ror.org/00twmyj12 |
| authorships[10].institutions[0].type | healthcare |
| authorships[10].institutions[0].lineage | https://openalex.org/I4210099059 |
| authorships[10].institutions[0].country_code | IT |
| authorships[10].institutions[0].display_name | Ospedale Vincenzo Cervello |
| authorships[10].institutions[1].id | https://openalex.org/I900890020 |
| authorships[10].institutions[1].ror | https://ror.org/044k9ta02 |
| authorships[10].institutions[1].type | education |
| authorships[10].institutions[1].lineage | https://openalex.org/I900890020 |
| authorships[10].institutions[1].country_code | IT |
| authorships[10].institutions[1].display_name | University of Palermo |
| authorships[10].author_position | last |
| authorships[10].raw_author_name | Maria Piccione |
| authorships[10].is_corresponding | False |
| authorships[10].raw_affiliation_strings | Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy, Medical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy |
| has_content.pdf | False |
| has_content.grobid_xml | False |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://doi.org/10.3389/fneur.2023.1090082 |
| open_access.oa_status | gold |
| open_access.any_repository_has_fulltext | False |
| created_date | 2023-02-09T00:00:00 |
| display_name | Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly |
| has_fulltext | False |
| is_retracted | False |
| updated_date | 2025-11-06T03:46:38.306776 |
| primary_topic.id | https://openalex.org/T11642 |
| primary_topic.field.id | https://openalex.org/fields/13 |
| primary_topic.field.display_name | Biochemistry, Genetics and Molecular Biology |
| primary_topic.score | 0.9993000030517578 |
| primary_topic.domain.id | https://openalex.org/domains/1 |
| primary_topic.domain.display_name | Life Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/1311 |
| primary_topic.subfield.display_name | Genetics |
| primary_topic.display_name | Genomics and Rare Diseases |
| related_works | https://openalex.org/W4391375266, https://openalex.org/W2353484916, https://openalex.org/W2033073781, https://openalex.org/W2796397969, https://openalex.org/W3194433524, https://openalex.org/W3199447437, https://openalex.org/W2612344412, https://openalex.org/W2910520828, https://openalex.org/W2563342065, https://openalex.org/W4319441669 |
| cited_by_count | 5 |
| counts_by_year[0].year | 2025 |
| counts_by_year[0].cited_by_count | 3 |
| counts_by_year[1].year | 2024 |
| counts_by_year[1].cited_by_count | 1 |
| counts_by_year[2].year | 2023 |
| counts_by_year[2].cited_by_count | 1 |
| locations_count | 5 |
| best_oa_location.id | doi:10.3389/fneur.2023.1090082 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S96975567 |
| best_oa_location.source.issn | 1664-2295 |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | True |
| best_oa_location.source.issn_l | 1664-2295 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | True |
| best_oa_location.source.display_name | Frontiers in Neurology |
| best_oa_location.source.host_organization | https://openalex.org/P4310320527 |
| best_oa_location.source.host_organization_name | Frontiers Media |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310320527 |
| best_oa_location.source.host_organization_lineage_names | Frontiers Media |
| best_oa_location.license | cc-by |
| best_oa_location.pdf_url | |
| best_oa_location.version | publishedVersion |
| best_oa_location.raw_type | journal-article |
| best_oa_location.license_id | https://openalex.org/licenses/cc-by |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | True |
| best_oa_location.raw_source_name | Frontiers in Neurology |
| best_oa_location.landing_page_url | https://doi.org/10.3389/fneur.2023.1090082 |
| primary_location.id | doi:10.3389/fneur.2023.1090082 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S96975567 |
| primary_location.source.issn | 1664-2295 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | True |
| primary_location.source.issn_l | 1664-2295 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | True |
| primary_location.source.display_name | Frontiers in Neurology |
| primary_location.source.host_organization | https://openalex.org/P4310320527 |
| primary_location.source.host_organization_name | Frontiers Media |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310320527 |
| primary_location.source.host_organization_lineage_names | Frontiers Media |
| primary_location.license | cc-by |
| primary_location.pdf_url | |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | https://openalex.org/licenses/cc-by |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | Frontiers in Neurology |
| primary_location.landing_page_url | https://doi.org/10.3389/fneur.2023.1090082 |
| publication_date | 2023-02-07 |
| publication_year | 2023 |
| referenced_works | https://openalex.org/W2082616562, https://openalex.org/W2130500619, https://openalex.org/W2045238723, https://openalex.org/W2771309567, https://openalex.org/W2887040071, https://openalex.org/W2108764350, https://openalex.org/W2421292002, https://openalex.org/W2503100207, https://openalex.org/W2952564037, https://openalex.org/W2909433047, https://openalex.org/W2119180969, https://openalex.org/W3111429537, https://openalex.org/W3044381985, https://openalex.org/W2894810571, https://openalex.org/W2106578986, https://openalex.org/W2086072858, https://openalex.org/W2129952088, https://openalex.org/W2160995259, https://openalex.org/W2535426958, https://openalex.org/W2580887223, https://openalex.org/W2051978340, https://openalex.org/W2018973814, https://openalex.org/W2521967673, https://openalex.org/W4242966160, https://openalex.org/W2949860192 |
| referenced_works_count | 25 |
| abstract_inverted_index.A | 95 |
| abstract_inverted_index.a | 6, 53, 115 |
| abstract_inverted_index.as | 114 |
| abstract_inverted_index.in | 3 |
| abstract_inverted_index.of | 22, 28, 42, 87, 98, 110, 119, 122 |
| abstract_inverted_index.or | 13 |
| abstract_inverted_index.to | 18 |
| abstract_inverted_index.we | 51 |
| abstract_inverted_index.Due | 17 |
| abstract_inverted_index.and | 37, 40, 70, 77 |
| abstract_inverted_index.fit | 82 |
| abstract_inverted_index.for | 59, 104 |
| abstract_inverted_index.has | 31, 91 |
| abstract_inverted_index.not | 32, 46 |
| abstract_inverted_index.the | 19, 25, 29, 38, 85, 99, 108, 120 |
| abstract_inverted_index.two | 60 |
| abstract_inverted_index.been | 33, 47, 92 |
| abstract_inverted_index.data | 103 |
| abstract_inverted_index.girl | 55 |
| abstract_inverted_index.have | 45 |
| abstract_inverted_index.here | 93 |
| abstract_inverted_index.well | 83 |
| abstract_inverted_index.with | 12, 56 |
| abstract_inverted_index.yet, | 36 |
| abstract_inverted_index.Here, | 50 |
| abstract_inverted_index.MED23 | 4, 62, 123 |
| abstract_inverted_index.axial | 68 |
| abstract_inverted_index.cause | 5 |
| abstract_inverted_index.fully | 34, 48 |
| abstract_inverted_index.small | 20 |
| abstract_inverted_index.these | 105 |
| abstract_inverted_index.tone, | 74 |
| abstract_inverted_index.tonic | 79 |
| abstract_inverted_index.which | 81 |
| abstract_inverted_index.MRT18, | 84 |
| abstract_inverted_index.absent | 75 |
| abstract_inverted_index.delay, | 67 |
| abstract_inverted_index.global | 65 |
| abstract_inverted_index.number | 21 |
| abstract_inverted_index.report | 52 |
| abstract_inverted_index.Besides | 64 |
| abstract_inverted_index.feature | 118 |
| abstract_inverted_index.speech, | 76 |
| abstract_inverted_index.without | 14 |
| abstract_inverted_index.(MRT18). | 16 |
| abstract_inverted_index.-related | 124 |
| abstract_inverted_index.clinical | 26, 102 |
| abstract_inverted_index.compound | 57 |
| abstract_inverted_index.confirms | 107 |
| abstract_inverted_index.disorder | 30 |
| abstract_inverted_index.epilepsy | 15 |
| abstract_inverted_index.features | 44 |
| abstract_inverted_index.muscular | 73 |
| abstract_inverted_index.reported | 23, 101 |
| abstract_inverted_index.spectrum | 39 |
| abstract_inverted_index.subjects | 106 |
| abstract_inverted_index.variants | 2 |
| abstract_inverted_index.Biallelic | 0 |
| abstract_inverted_index.condition | 11 |
| abstract_inverted_index.disorder. | 125 |
| abstract_inverted_index.frequency | 41 |
| abstract_inverted_index.hypotonia | 69 |
| abstract_inverted_index.increased | 72 |
| abstract_inverted_index.phenotype | 27, 121 |
| abstract_inverted_index.postnatal | 88, 111 |
| abstract_inverted_index.recessive | 7 |
| abstract_inverted_index.seizures, | 80 |
| abstract_inverted_index.syndromic | 8 |
| abstract_inverted_index.variants. | 63 |
| abstract_inverted_index.5-year-old | 54 |
| abstract_inverted_index.additional | 61 |
| abstract_inverted_index.assessment | 97 |
| abstract_inverted_index.delineated | 35 |
| abstract_inverted_index.disability | 10 |
| abstract_inverted_index.neurologic | 43 |
| abstract_inverted_index.occurrence | 86, 109 |
| abstract_inverted_index.peripheral | 71 |
| abstract_inverted_index.previously | 100, 116 |
| abstract_inverted_index.documented. | 94 |
| abstract_inverted_index.generalized | 78 |
| abstract_inverted_index.progressive | 89, 112 |
| abstract_inverted_index.heterozygous | 58 |
| abstract_inverted_index.individuals, | 24 |
| abstract_inverted_index.intellectual | 9 |
| abstract_inverted_index.microcephaly | 90, 113 |
| abstract_inverted_index.developmental | 66 |
| abstract_inverted_index.retrospective | 96 |
| abstract_inverted_index.unappreciated | 117 |
| abstract_inverted_index.characterized. | 49 |
| abstract_inverted_index.loss-of-function | 1 |
| cited_by_percentile_year.max | 97 |
| cited_by_percentile_year.min | 89 |
| corresponding_author_ids | https://openalex.org/A5044400012 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 11 |
| corresponding_institution_ids | https://openalex.org/I4210099059 |
| citation_normalized_percentile.value | 0.8567539 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |