From de novo mutations to personalized therapeutic interventions in autism.

Abstract excerpt

The high heritability, early age at onset, and reproductive disadvantages of autism spectrum disorders (ASDs) are consistent with an etiology composed of dominant-acting de novo (spontaneous) mutations. Mutation detection by microarray analysis and DNA sequencing has confirmed that de novo copy-number variants or point mutations in protein-coding regions of genes contribute to risk, and some of the underlying...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child Development Disorders, Pervasive
• Share to DNA Copy Number Variations
• Share to Genetic Predisposition to Disease