Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

Rare mutations, including copy-number variants (CNVs), contribute significantly to autism spectrum disorder (ASD) risk. Although their importance has been established in families with only one affected child (simplex families), the contribution of both de novo and inherited CNVs to ASD in families w...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Leppa, Virpi M., Kravitz, Stephanie N., Martin, Christa Lese, Andrieux, Joris, Le Caignec, Cedric, Martin-Coignard, Dominique, DyBuncio, Christina, Sanders, Stephan J., Lowe, Jennifer K., Cantor, Rita M., Geschwind, Daniel H.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5011063/
https://ncbi.nlm.nih.gov/pubmed/27569545
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.06.036
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