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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...

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Identifiers

PMID: 21969575
DOI: 10.1073/pnas.1114042108
PMCID: PMC3193230

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Source receipt: pubmed, retrieved 7 Sept 2026.

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