From pollakiuria to Donnai‐Barrow syndrome diagnosis in pediatric age Article Swipe
Michela Gritti
,
Luca Pecoraro
,
Monica Ceol
,
Angelo Pietrobelli
,
Giorgio Piacentini
,
Franca Anglani
,
Milena Brugnara
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1111/cge.14417
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1111/cge.14417
We report the case of two siblings with incomplete Donnai-Barrow syndrome (DBS) phenotype carrying three LRP2 variants never associated before with DBS phenotype.
Related Topics
Concepts
Metadata
- Type
- letter
- Language
- en
- Landing Page
- https://doi.org/10.1111/cge.14417
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14417
- OA Status
- hybrid
- References
- 3
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4385968818
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4385968818Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1111/cge.14417Digital Object Identifier
- Title
-
From pollakiuria to Donnai‐Barrow syndrome diagnosis in pediatric ageWork title
- Type
-
letterOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-08-17Full publication date if available
- Authors
-
Michela Gritti, Luca Pecoraro, Monica Ceol, Angelo Pietrobelli, Giorgio Piacentini, Franca Anglani, Milena BrugnaraList of authors in order
- Landing page
-
https://doi.org/10.1111/cge.14417Publisher landing page
- PDF URL
-
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14417Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
- OA URL
-
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14417Direct OA link when available
- Concepts
-
Medicine, PediatricsTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
0Total citation count in OpenAlex
- References (count)
-
3Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W4385968818 |
|---|---|
| doi | https://doi.org/10.1111/cge.14417 |
| ids.doi | https://doi.org/10.1111/cge.14417 |
| ids.pmid | https://pubmed.ncbi.nlm.nih.gov/37592754 |
| ids.openalex | https://openalex.org/W4385968818 |
| fwci | 0.0 |
| mesh[0].qualifier_ui | |
| mesh[0].descriptor_ui | D006801 |
| mesh[0].is_major_topic | False |
| mesh[0].qualifier_name | |
| mesh[0].descriptor_name | Humans |
| mesh[1].qualifier_ui | |
| mesh[1].descriptor_ui | D002648 |
| mesh[1].is_major_topic | False |
| mesh[1].qualifier_name | |
| mesh[1].descriptor_name | Child |
| mesh[2].qualifier_ui | Q000235 |
| mesh[2].descriptor_ui | D006319 |
| mesh[2].is_major_topic | True |
| mesh[2].qualifier_name | genetics |
| mesh[2].descriptor_name | Hearing Loss, Sensorineural |
| mesh[3].qualifier_ui | Q000235 |
| mesh[3].descriptor_ui | D009216 |
| mesh[3].is_major_topic | True |
| mesh[3].qualifier_name | genetics |
| mesh[3].descriptor_name | Myopia |
| mesh[4].qualifier_ui | Q000175 |
| mesh[4].descriptor_ui | D065630 |
| mesh[4].is_major_topic | True |
| mesh[4].qualifier_name | diagnosis |
| mesh[4].descriptor_name | Hernias, Diaphragmatic, Congenital |
| mesh[5].qualifier_ui | Q000175 |
| mesh[5].descriptor_ui | D011507 |
| mesh[5].is_major_topic | False |
| mesh[5].qualifier_name | diagnosis |
| mesh[5].descriptor_name | Proteinuria |
| mesh[6].qualifier_ui | Q000235 |
| mesh[6].descriptor_ui | D026561 |
| mesh[6].is_major_topic | False |
| mesh[6].qualifier_name | genetics |
| mesh[6].descriptor_name | Low Density Lipoprotein Receptor-Related Protein-2 |
| mesh[7].qualifier_ui | Q000175 |
| mesh[7].descriptor_ui | D011507 |
| mesh[7].is_major_topic | False |
| mesh[7].qualifier_name | diagnosis |
| mesh[7].descriptor_name | Proteinuria |
| mesh[8].qualifier_ui | |
| mesh[8].descriptor_ui | D015499 |
| mesh[8].is_major_topic | False |
| mesh[8].qualifier_name | |
| mesh[8].descriptor_name | Renal Tubular Transport, Inborn Errors |
| mesh[9].qualifier_ui | Q000235 |
| mesh[9].descriptor_ui | D026561 |
| mesh[9].is_major_topic | False |
| mesh[9].qualifier_name | genetics |
| mesh[9].descriptor_name | Low Density Lipoprotein Receptor-Related Protein-2 |
| mesh[10].qualifier_ui | Q000235 |
| mesh[10].descriptor_ui | D006319 |
| mesh[10].is_major_topic | True |
| mesh[10].qualifier_name | genetics |
| mesh[10].descriptor_name | Hearing Loss, Sensorineural |
| mesh[11].qualifier_ui | |
| mesh[11].descriptor_ui | D006801 |
| mesh[11].is_major_topic | False |
| mesh[11].qualifier_name | |
| mesh[11].descriptor_name | Humans |
| mesh[12].qualifier_ui | |
| mesh[12].descriptor_ui | D061085 |
| mesh[12].is_major_topic | False |
| mesh[12].qualifier_name | |
| mesh[12].descriptor_name | Agenesis of Corpus Callosum |
| mesh[13].qualifier_ui | Q000235 |
| mesh[13].descriptor_ui | D009216 |
| mesh[13].is_major_topic | True |
| mesh[13].qualifier_name | genetics |
| mesh[13].descriptor_name | Myopia |
| mesh[14].qualifier_ui | |
| mesh[14].descriptor_ui | D002648 |
| mesh[14].is_major_topic | False |
| mesh[14].qualifier_name | |
| mesh[14].descriptor_name | Child |
| mesh[15].qualifier_ui | Q000175 |
| mesh[15].descriptor_ui | D065630 |
| mesh[15].is_major_topic | True |
| mesh[15].qualifier_name | diagnosis |
| mesh[15].descriptor_name | Hernias, Diaphragmatic, Congenital |
| type | letter |
| title | From pollakiuria to Donnai‐Barrow syndrome diagnosis in pediatric age |
| biblio.issue | 6 |
| biblio.volume | 104 |
| biblio.last_page | 712 |
| biblio.first_page | 711 |
| topics[0].id | https://openalex.org/T10499 |
| topics[0].field.id | https://openalex.org/fields/27 |
| topics[0].field.display_name | Medicine |
| topics[0].score | 0.9883999824523926 |
| topics[0].domain.id | https://openalex.org/domains/4 |
| topics[0].domain.display_name | Health Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/2745 |
| topics[0].subfield.display_name | Rheumatology |
| topics[0].display_name | Folate and B Vitamins Research |
| topics[1].id | https://openalex.org/T13813 |
| topics[1].field.id | https://openalex.org/fields/36 |
| topics[1].field.display_name | Health Professions |
| topics[1].score | 0.9835000038146973 |
| topics[1].domain.id | https://openalex.org/domains/4 |
| topics[1].domain.display_name | Health Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/3616 |
| topics[1].subfield.display_name | Speech and Hearing |
| topics[1].display_name | Oral and Craniofacial Lesions |
| topics[2].id | https://openalex.org/T10665 |
| topics[2].field.id | https://openalex.org/fields/27 |
| topics[2].field.display_name | Medicine |
| topics[2].score | 0.9782000184059143 |
| topics[2].domain.id | https://openalex.org/domains/4 |
| topics[2].domain.display_name | Health Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/2740 |
| topics[2].subfield.display_name | Pulmonary and Respiratory Medicine |
| topics[2].display_name | Cystic Fibrosis Research Advances |
| is_xpac | False |
| apc_list.value | 4740 |
| apc_list.currency | USD |
| apc_list.value_usd | 4740 |
| apc_paid.value | 4740 |
| apc_paid.currency | USD |
| apc_paid.value_usd | 4740 |
| concepts[0].id | https://openalex.org/C71924100 |
| concepts[0].level | 0 |
| concepts[0].score | 0.4477720260620117 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q11190 |
| concepts[0].display_name | Medicine |
| concepts[1].id | https://openalex.org/C187212893 |
| concepts[1].level | 1 |
| concepts[1].score | 0.41467756032943726 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q123028 |
| concepts[1].display_name | Pediatrics |
| keywords[0].id | https://openalex.org/keywords/medicine |
| keywords[0].score | 0.4477720260620117 |
| keywords[0].display_name | Medicine |
| keywords[1].id | https://openalex.org/keywords/pediatrics |
| keywords[1].score | 0.41467756032943726 |
| keywords[1].display_name | Pediatrics |
| language | en |
| locations[0].id | doi:10.1111/cge.14417 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S4954800 |
| locations[0].source.issn | 0009-9163, 1399-0004 |
| locations[0].source.type | journal |
| locations[0].source.is_oa | False |
| locations[0].source.issn_l | 0009-9163 |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | False |
| locations[0].source.display_name | Clinical Genetics |
| locations[0].source.host_organization | https://openalex.org/P4310320595 |
| locations[0].source.host_organization_name | Wiley |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310320595 |
| locations[0].source.host_organization_lineage_names | Wiley |
| locations[0].license | cc-by |
| locations[0].pdf_url | https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14417 |
| 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 | Clinical Genetics |
| locations[0].landing_page_url | https://doi.org/10.1111/cge.14417 |
| locations[1].id | pmid:37592754 |
| 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 | Clinical genetics |
| locations[1].landing_page_url | https://pubmed.ncbi.nlm.nih.gov/37592754 |
| indexed_in | crossref, pubmed |
| authorships[0].author.id | https://openalex.org/A5108741218 |
| authorships[0].author.orcid | |
| authorships[0].author.display_name | Michela Gritti |
| authorships[0].countries | IT |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I119439378 |
| authorships[0].affiliations[0].raw_affiliation_string | Pediatric Clinic, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy |
| authorships[0].institutions[0].id | https://openalex.org/I119439378 |
| authorships[0].institutions[0].ror | https://ror.org/039bp8j42 |
| authorships[0].institutions[0].type | education |
| authorships[0].institutions[0].lineage | https://openalex.org/I119439378 |
| authorships[0].institutions[0].country_code | IT |
| authorships[0].institutions[0].display_name | University of Verona |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Michela M. Gritti |
| authorships[0].is_corresponding | False |
| authorships[0].raw_affiliation_strings | Pediatric Clinic, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy |
| authorships[1].author.id | https://openalex.org/A5022012392 |
| authorships[1].author.orcid | https://orcid.org/0000-0002-9765-8006 |
| authorships[1].author.display_name | Luca Pecoraro |
| authorships[1].countries | IT |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I119439378 |
| authorships[1].affiliations[0].raw_affiliation_string | Department of Medicine, University of Verona, Verona, Italy |
| authorships[1].affiliations[1].institution_ids | https://openalex.org/I119439378 |
| authorships[1].affiliations[1].raw_affiliation_string | Pediatric Clinic, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy |
| authorships[1].institutions[0].id | https://openalex.org/I119439378 |
| authorships[1].institutions[0].ror | https://ror.org/039bp8j42 |
| authorships[1].institutions[0].type | education |
| authorships[1].institutions[0].lineage | https://openalex.org/I119439378 |
| authorships[1].institutions[0].country_code | IT |
| authorships[1].institutions[0].display_name | University of Verona |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Luca Pecoraro |
| authorships[1].is_corresponding | True |
| authorships[1].raw_affiliation_strings | Department of Medicine, University of Verona, Verona, Italy, Pediatric Clinic, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy |
| authorships[2].author.id | https://openalex.org/A5031992531 |
| authorships[2].author.orcid | https://orcid.org/0000-0001-7489-2433 |
| authorships[2].author.display_name | Monica Ceol |
| authorships[2].countries | IT |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I138689650 |
| authorships[2].affiliations[0].raw_affiliation_string | Kidney Histomorphology and Molecular Biology Laboratory, Nephrology, Dialysis and Transplantation Unit, Department of Medicine-DIMED, University of Padua, Padua, Italy |
| authorships[2].institutions[0].id | https://openalex.org/I138689650 |
| authorships[2].institutions[0].ror | https://ror.org/00240q980 |
| authorships[2].institutions[0].type | education |
| authorships[2].institutions[0].lineage | https://openalex.org/I138689650 |
| authorships[2].institutions[0].country_code | IT |
| authorships[2].institutions[0].display_name | University of Padua |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Monica Ceol |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | Kidney Histomorphology and Molecular Biology Laboratory, Nephrology, Dialysis and Transplantation Unit, Department of Medicine-DIMED, University of Padua, Padua, Italy |
| authorships[3].author.id | https://openalex.org/A5061711044 |
| authorships[3].author.orcid | https://orcid.org/0000-0002-9912-3232 |
| authorships[3].author.display_name | Angelo Pietrobelli |
| authorships[3].countries | IT |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I119439378 |
| authorships[3].affiliations[0].raw_affiliation_string | Pediatric Clinic, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy |
| authorships[3].institutions[0].id | https://openalex.org/I119439378 |
| authorships[3].institutions[0].ror | https://ror.org/039bp8j42 |
| authorships[3].institutions[0].type | education |
| authorships[3].institutions[0].lineage | https://openalex.org/I119439378 |
| authorships[3].institutions[0].country_code | IT |
| authorships[3].institutions[0].display_name | University of Verona |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Angelo Pietrobelli |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | Pediatric Clinic, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy |
| authorships[4].author.id | https://openalex.org/A5066040432 |
| authorships[4].author.orcid | https://orcid.org/0000-0003-1324-4373 |
| authorships[4].author.display_name | Giorgio Piacentini |
| authorships[4].countries | IT |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I119439378 |
| authorships[4].affiliations[0].raw_affiliation_string | Pediatric Clinic, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy |
| authorships[4].institutions[0].id | https://openalex.org/I119439378 |
| authorships[4].institutions[0].ror | https://ror.org/039bp8j42 |
| authorships[4].institutions[0].type | education |
| authorships[4].institutions[0].lineage | https://openalex.org/I119439378 |
| authorships[4].institutions[0].country_code | IT |
| authorships[4].institutions[0].display_name | University of Verona |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Giorgio Piacentini |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | Pediatric Clinic, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy |
| authorships[5].author.id | https://openalex.org/A5073105208 |
| authorships[5].author.orcid | https://orcid.org/0000-0003-1534-4458 |
| authorships[5].author.display_name | Franca Anglani |
| authorships[5].countries | IT |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I138689650 |
| authorships[5].affiliations[0].raw_affiliation_string | Kidney Histomorphology and Molecular Biology Laboratory, Nephrology, Dialysis and Transplantation Unit, Department of Medicine-DIMED, University of Padua, Padua, Italy |
| authorships[5].institutions[0].id | https://openalex.org/I138689650 |
| authorships[5].institutions[0].ror | https://ror.org/00240q980 |
| authorships[5].institutions[0].type | education |
| authorships[5].institutions[0].lineage | https://openalex.org/I138689650 |
| authorships[5].institutions[0].country_code | IT |
| authorships[5].institutions[0].display_name | University of Padua |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Franca Anglani |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | Kidney Histomorphology and Molecular Biology Laboratory, Nephrology, Dialysis and Transplantation Unit, Department of Medicine-DIMED, University of Padua, Padua, Italy |
| authorships[6].author.id | https://openalex.org/A5113853082 |
| authorships[6].author.orcid | |
| authorships[6].author.display_name | Milena Brugnara |
| authorships[6].countries | IT |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I119439378 |
| authorships[6].affiliations[0].raw_affiliation_string | Pediatric Clinic, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy |
| authorships[6].institutions[0].id | https://openalex.org/I119439378 |
| authorships[6].institutions[0].ror | https://ror.org/039bp8j42 |
| authorships[6].institutions[0].type | education |
| authorships[6].institutions[0].lineage | https://openalex.org/I119439378 |
| authorships[6].institutions[0].country_code | IT |
| authorships[6].institutions[0].display_name | University of Verona |
| authorships[6].author_position | last |
| authorships[6].raw_author_name | Milena Brugnara |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | Pediatric Clinic, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy |
| has_content.pdf | True |
| has_content.grobid_xml | True |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14417 |
| open_access.oa_status | hybrid |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-10-10T00:00:00 |
| display_name | From pollakiuria to Donnai‐Barrow syndrome diagnosis in pediatric age |
| has_fulltext | True |
| is_retracted | False |
| updated_date | 2025-11-06T03:46:38.306776 |
| primary_topic.id | https://openalex.org/T10499 |
| primary_topic.field.id | https://openalex.org/fields/27 |
| primary_topic.field.display_name | Medicine |
| primary_topic.score | 0.9883999824523926 |
| primary_topic.domain.id | https://openalex.org/domains/4 |
| primary_topic.domain.display_name | Health Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/2745 |
| primary_topic.subfield.display_name | Rheumatology |
| primary_topic.display_name | Folate and B Vitamins Research |
| related_works | https://openalex.org/W2899084033, https://openalex.org/W2748952813, https://openalex.org/W3031052312, https://openalex.org/W3032375762, https://openalex.org/W1995515455, https://openalex.org/W2080531066, https://openalex.org/W3108674512, https://openalex.org/W1506200166, https://openalex.org/W2048182022, https://openalex.org/W2604872355 |
| cited_by_count | 0 |
| locations_count | 2 |
| best_oa_location.id | doi:10.1111/cge.14417 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S4954800 |
| best_oa_location.source.issn | 0009-9163, 1399-0004 |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | False |
| best_oa_location.source.issn_l | 0009-9163 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | False |
| best_oa_location.source.display_name | Clinical Genetics |
| best_oa_location.source.host_organization | https://openalex.org/P4310320595 |
| best_oa_location.source.host_organization_name | Wiley |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310320595 |
| best_oa_location.source.host_organization_lineage_names | Wiley |
| best_oa_location.license | cc-by |
| best_oa_location.pdf_url | https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14417 |
| 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 | Clinical Genetics |
| best_oa_location.landing_page_url | https://doi.org/10.1111/cge.14417 |
| primary_location.id | doi:10.1111/cge.14417 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S4954800 |
| primary_location.source.issn | 0009-9163, 1399-0004 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | False |
| primary_location.source.issn_l | 0009-9163 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | False |
| primary_location.source.display_name | Clinical Genetics |
| primary_location.source.host_organization | https://openalex.org/P4310320595 |
| primary_location.source.host_organization_name | Wiley |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310320595 |
| primary_location.source.host_organization_lineage_names | Wiley |
| primary_location.license | cc-by |
| primary_location.pdf_url | https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14417 |
| 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 | Clinical Genetics |
| primary_location.landing_page_url | https://doi.org/10.1111/cge.14417 |
| publication_date | 2023-08-17 |
| publication_year | 2023 |
| referenced_works | https://openalex.org/W2147073009, https://openalex.org/W2051978340, https://openalex.org/W1580490175 |
| referenced_works_count | 3 |
| abstract_inverted_index.We | 0 |
| abstract_inverted_index.of | 4 |
| abstract_inverted_index.DBS | 21 |
| abstract_inverted_index.the | 2 |
| abstract_inverted_index.two | 5 |
| abstract_inverted_index.LRP2 | 15 |
| abstract_inverted_index.case | 3 |
| abstract_inverted_index.with | 7, 20 |
| abstract_inverted_index.(DBS) | 11 |
| abstract_inverted_index.never | 17 |
| abstract_inverted_index.three | 14 |
| abstract_inverted_index.before | 19 |
| abstract_inverted_index.report | 1 |
| abstract_inverted_index.carrying | 13 |
| abstract_inverted_index.siblings | 6 |
| abstract_inverted_index.syndrome | 10 |
| abstract_inverted_index.variants | 16 |
| abstract_inverted_index.phenotype | 12 |
| abstract_inverted_index.associated | 18 |
| abstract_inverted_index.incomplete | 8 |
| abstract_inverted_index.phenotype. | 22 |
| abstract_inverted_index.Donnai-Barrow | 9 |
| cited_by_percentile_year | |
| corresponding_author_ids | https://openalex.org/A5022012392 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 7 |
| corresponding_institution_ids | https://openalex.org/I119439378 |
| citation_normalized_percentile.value | 0.26009698 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |