Article
Copy-number variation in the pathogenesis of autism spectrum disorder.
Psychiatry and clinical neurosciences - 1 Feb 2014
Shishido Emiko, Aleksic Branko, Ozaki Norio
Abstract excerpt
Autism spectrum disorder is a neurodevelopmental disorder present in 1% of the population, characterized by impairments in reciprocal social interaction, communication deficits and restricted patterns of behavior. Approximately 10% of the autism spectrum disorder population is thought to have large chromosomal rearrangements. Copy-number variations (CNV) alter the genome structure either by duplication or...
Topics
- Child
- Child Development Disorders, Pervasive
- DNA Copy Number Variations
- Humans
- Mutation
- Signal Transduction
