Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

ConclusionsDisruption ofDMXL2 may predispose to NDDs including autism spectrum disorder. The robust interpretation of private variants requires a multifaceted approach that incorporates multigenerational pedigrees and genome-wide and population-scale data.

http://link.springer.com/10.1186/s11689-019-9263-3

Source: Journal of Neurodevelopmental Disorders - February 7, 2019 Category: Neurology Source Type: research