Article
Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics - 1 Jul 2015
Gamsiz Ece D, Sciarra Laura N, Maguire Abbie M, Pescosolido Matthew F, van Dyck Laura I, Morrow Eric M
Abstract excerpt
Autism spectrum disorder (ASD) is a group of highly genetic neurodevelopmental disorders characterized by language, social, cognitive, and behavioral abnormalities. ASD is a complex disorder with a heterogeneous etiology. The genetic architecture of autism is such that a variety of different rare mutations have been discovered, including rare monogenic conditions that involve autistic symptoms. Also, de novo copy...
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