Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study.

Keywords

ANXA1 Autism Brain Homeostasis Copy Number Variants Duplication Glucocorticoids Perturbações do Desenvolvimento Infantil e Saúde Mental

URI

http://hdl.handle.net/10400.18/2272

Citation

Mol Autism. 2014 Apr 10;5(1):28. doi: 10.1186/2040-2392-5-28.

Publisher

BioMed Central

Collections

DPSPDNT - Artigos em revistas internacionais

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