Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability

Recent findings revealed rare copy number variants and missense changes in the X-linked gene PTCHD1 in autism spectrum disorder (ASD) and intellectual disability (ID). Here, we aim to explore the contribution of common PTCHD1 variants in ASD and gain additional evidence for the role of rare variants...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Torrico, Bàrbara, Fernàndez-Castillo, Noèlia, Hervás, Amaia, Milà, Montserrat, Salgado, Marta, Rueda, Isabel, Buitelaar, Jan K, Rommelse, Nanda, Oerlemans, Anoek M, Bralten, Janita, Freitag, Christine M, Reif, Andreas, Battaglia, Agatino, Mazzone, Luigi, Maestrini, Elena, Cormand, Bru, Toma, Claudio
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795195/
https://ncbi.nlm.nih.gov/pubmed/25782667
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.37
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