Article
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.
European journal of human genetics : EJHG - 1 Dec 2015
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
Abstract excerpt
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 of this gene in ASD and ID. A two-stage case-control association study investigated 28 tag single nucleotide...
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