Correia, C.T.Conceição, I.C.Oliveira, B.Coelho, J.Sousa, I.Sequeira, A.F.Almeida, J.Café, C.Duque, FMouga, S.Roberts, W.Gao, K.Lowe, J.K.Thiruvahindrapuram, B.Walker, S.Marshall, C.R.Pinto, D.Nurnberger, J.I.Scherer, S.W.Geschwind, D.H.Oliveira, G.Vicente, A.M.2014-05-082014-05-082014-04Mol Autism. 2014 Apr 10;5(1):28. doi: 10.1186/2040-2392-5-28.2040-2392doi: 10.1186/2040-2392-5-28http://hdl.handle.net/10400.18/2272Validating 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.engANXA1AutismBrain HomeostasisCopy Number VariantsDuplicationGlucocorticoidsPerturbações do Desenvolvimento Infantil e Saúde Mentaljournal article