Article
Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism.
Proceedings of the National Academy of Sciences of the United States of America - 11 Oct 2011
Horev Guy, Ellegood Jacob, Lerch Jason P, Son Young-Eun E, Muthuswamy Lakshmi, Vogel Hannes, Krieger Abba M, Buja Andreas, Henkelman R Mark, Wigler Michael, Mills Alea A
Abstract excerpt
Recurrent copy number variations (CNVs) of human 16p11.2 have been associated with a variety of developmental/neurocognitive syndromes. In particular, deletion of 16p11.2 is found in patients with autism, developmental delay, and obesity. Patients with deletions or duplications have a wide range of clinical features, and siblings carrying the same deletion often have diverse symptoms. To study the consequence of...
Topics
- Animals
- Autistic Disorder
- Behavior, Animal
- Brain
- Chromosome Deletion
- Chromosomes, Human, Pair 16
- Circadian Rhythm
- Disease Models, Animal
- Female
- Gene Dosage