Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Etiology in Copy Number Variants Containing Synaptic Genes

Oliveira, B.A.; Correia, C.A.; Conceição, I.C.; Café, C.; Almeida, J.; Mouga, S.; Duque, F.; Oliveira, G.; Vicente, A.M.

http://hdl.handle.net/10400.18/1640

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Resumo(s)

Copy Number Variants (CNVs) play an important role in susceptibility to ASD, often mediated by the deletion or duplication of genes involved in synaptic structure and function. Increasing evidence suggests a central role for defects in synaptic structure and function in the pathogenesis of non-syndromic ASD. In this study we tested the hypothesis of an enrichment in CNVs encompassing synaptic transmission genes in ASD

Palavras-chave

Perturbações do Desenvolvimento Infantil e Saúde Mental Autism Autism Spectrum Disorders Copy Number Variants ASD CNVs

URI

http://hdl.handle.net/10400.18/1640

Editora

Instituto Nacional de Saúde Doutor Ricardo Jorge, IP

Coleções

DPSPDNT - Posters/abstracts em congressos internacionais

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