Article
Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach.
Dialogues in clinical neuroscience - 1 Dec 2017
Fernandez Bridget A, Scherer Stephen W
Abstract excerpt
Autism spectrum disorder (ASD) encompasses a group of neurodevelopmental conditions diagnosed solely on the basis of behavioral assessments that reveal social deficits. Progress has been made in understanding its genetic underpinnings, but most ASD-associated genetic variants, which include copy number variants (CNVs) and mutations in ASD-risk genes, account for no more than 1 % of ASD cases. This high level of...
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