Open AccessCardiofaciocutaneous syndrome with rare structural variant in DOCK8 gene associated with neurodevelopmental disorders
Author(s) -
Dell'Edera Domenico,
Debellis Lucantonio,
Mitidieri Angela,
Anna Epifania Annunziata,
Cuscianna Eustachio,
Allegretti Arianna
Publication year - 2020
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.2729
Subject(s) - medicine , rare disease , genetics , bioinformatics , pathology , disease , biology
We describe a girl with clinical signs of cardiofaciocutaneous syndrome who simultaneously presents a mutation in the BRAF gene and a 9p24.3 microduplication. This genetic condition has never been described in the literature and could explain the phenotypic variability observed in the girl.