Francesca Peluso
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View article: The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder Open
View article: Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature
Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature Open
Introduction: Xia-Gibbs syndrome (OMIM 615829) is a rare developmental disorder, caused by heterozygous de novo variants in the AHDC1 gene. Hallmark features include global developmental delay, facial dysmorphisms, and…
View article: Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature
Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature Open
In 1990, Gorlin et al. described four types of craniofacial duplications: (1) single mouth with duplication of the maxillary arch; (2) supernumerary mouth laterally placed with rudimentary segments; (3) single mouth with replication of the…
View article: Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature Open
Background KBG syndrome is caused by haploinsufficiency of ANKRD11 and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and …
View article: A Particular Case of Autosomal Recessive Progressive Symmetrical Erythrokeratodermia (PSEK) and a Review of the Literature.
A Particular Case of Autosomal Recessive Progressive Symmetrical Erythrokeratodermia (PSEK) and a Review of the Literature. Open
Case report A A 10-year-old female patient born from non-consanguineous healthy parents after a regular pregnancy developed, at the age of 3 months, diffuse hyperkeratotic, pruritic plaques on her face, forearms, wrists, perineal and sacra…
View article: Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes Open
Split Hand-Foot Malformation (SHFM) is a congenital limb defect characterized by a median cleft of the hands and/or feet due to the absence/hypoplasia of the central rays. It may occur as part of a syndromic condition or as an isolated mal…
View article: The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder Open
View article: Identification of bi‐allelic <i>LFNG</i> variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3
Identification of bi‐allelic <i>LFNG</i> variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3 Open
Spondylocostal dysostosis (SCD), a condition characterized by multiple segmentation defects of the vertebrae and rib malformations, is caused by bi‐allelic variants in one of the genes involved in the Notch signaling pathway that tunes the…
View article: Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome Open
Pathogenic variants in RASA1 are typically associated with a clinical condition called “capillary malformation-arteriovenous malformation” (CM-AVM) syndrome, an autosomal dominant genetic disease characterized by a broad phenotypic variabi…
View article: Optic nerve involvement in <i>CACNA1F</i>-related disease: observations from a multicentric case series
Optic nerve involvement in <i>CACNA1F</i>-related disease: observations from a multicentric case series Open
Our data support the hypothesis that CACNA1F could be related to early-onset or congenital optic nerve involvement without any signs of a progressive optic neuropathy. Even though additional data from larger cohorts and longer follow-up pe…
View article: A monoallelic<scp><i>SEC23A</i></scp>variant<scp>E599K</scp>associated with<scp>cranio‐lenticulo‐sutural</scp>dysplasia
A monoallelic<span><i>SEC23A</i></span>variant<span>E599K</span>associated with<span>cranio‐lenticulo‐sutural</span>dysplasia Open
Cranio‐lenticulo‐sutural dysplasia (CLSD; MIM 607812) is a rare or underdiagnosed condition, as only two families have been reported. The original family (Boyadjiev et al., Human Genetics , 2003, 113, 1–9 and Boyadjiev et al., Nature Genet…
View article: Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples Open
We report on two siblings suffering from different pathogenic conditions, born to consanguineous parents. A multigene panel for brain malformations and microcephaly identified the homozygous splicing variant NM_005886.3:c.1416+1del in the …
View article: Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females
Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females Open
Since 2011, eight males with an X-linked recessive disorder (Ogden syndrome, MIM #300855) associated with the same missense variant p.(Ser37Pro) in the NAA10 gene have been described. After the advent of whole exome sequencing, many NAA10 …
View article: Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report Open
Background Mutations in lysyl-tRNA synthetase ( KARS1 ), an enzyme that charges tRNA with the amino acid lysine in both the cytoplasm and mitochondria, have been associated thus far with autosomal recessive Charcot–Marie–Tooth type CMTRIB,…
View article: Table of Contents, Volume 182A, Number 12, December 2020
Table of Contents, Volume 182A, Number 12, December 2020 Open
View article: Expanding the phenotype of <scp>Wiedemann‐Steiner</scp> syndrome: Craniovertebral junction anomalies
Expanding the phenotype of <span>Wiedemann‐Steiner</span> syndrome: Craniovertebral junction anomalies Open
Wiedemann–Steiner syndrome (WDSTS) is a rare autosomal dominant condition caused by heterozygous loss of function variants in the KMT2A (MLL ) gene, encoding a lysine N‐methyltransferase that mediates a histone methylation pattern specific…
View article: Identification, molecular characterization and segregation analysis of a variant <i>DMPK</i> pre-mutation allele in a three-generation Italian family.
Identification, molecular characterization and segregation analysis of a variant <i>DMPK</i> pre-mutation allele in a three-generation Italian family. Open
DM1 is an autosomal dominant multisystemic disease caused by an unstable CTG repeat expansion in the 3'-untranslated region (UTR) of the DMPK gene. The complex variant DMPK expanded the alleles containing CAG, CCG, CTC and/or…
View article: Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective.
Michelangelo’s David: triumph of perfection or perfect combination of variation and disproportions? A human perspective. Open
Michelangelo’s marble sculpture of David is one of the most admired works of art in the world. It is the most iconic symbol of the Florentine Renaissance, and a representation of the idealized human form in its perfection and proportion. T…
View article: An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature Open