A de novo CHD3 variant in a child with intellectual disability, autism, joint laxity, and dysmorphisms

Chromodomain helicase DNA-binding (CHD) proteins play important roles in developmental processes. CHD3, a member of the CHD family of proteins, was reported to be a cause of a neurodevelopmental syndrome by Snijders Blok et al., but only a small number of probands have been reported.
Source: Brain and Development - Category: Neurology Authors: Tags: Case Report Source Type: research