Cardiofaciocutaneous syndrome with rare structural variant in DOCK8 gene associated with neurodevelopmental disorders

Cardiofaciocutaneous syndrome with rare structural variant in DOCK8 gene associated with neurodevelopmental disorders

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.

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Veröffentlicht in:Clinical case reports 2020, Vol.8 (3), p.539-544
Hauptverfasser: Dell'Edera, Domenico, Debellis, Lucantonio, Mitidieri, Angela, Anna Epifania, Annunziata, Cuscianna, Eustachio, Allegretti, Arianna
Format: Report
Sprache:eng
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Zusammenfassung: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.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.2729