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.

Palavras-chave

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

URI

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

Citação

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

Editora

BioMed Central

Coleções

DPSPDNT - Artigos em revistas internacionais

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