Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.

Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.
Clin Genet. 2017 Sep 28;:
Authors: Lebrun N, Parent P, Gendras J, Billuart P, Poirier K, Bienvenu T
Abstract
Germline mosaicism for a novel missense variant p.Thr645Met located in the SNF2-related ATP dependent helicase domain of CHD2 in 2 affected siblings with autism spectrum disorder.
PMID: 28960266 [PubMed - as supplied by publisher]

Source: Clinical Genetics - September 28, 2017 Category: Genetics & Stem Cells Authors: Lebrun N, Parent P, Gendras J, Billuart P, Poirier K, Bienvenu T Tags: Clin Genet Source Type: research