Cardiofaciocutaneous Syndrome With Rare Structural Variant In Dock8 Gene Associated With Neurodevelopmental Disorders

Domenico Dell'Edera,Lucantonio Debellis,Angela Mitidieri,Annunziata Anna Epifania,Eustachio Cuscianna,Arianna Allegretti

CLINICAL CASE REPORTS（2020）

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摘要

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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关键词

BRAF, cardiofaciocutaneous syndrome, DOCK8, multiple congenital anomaly, neurodevelopmental disorders

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