Disruption at the PTCHD1 locus on Xp22.11 in autism spectrum disorder and intellectual disability

Autism is a common neurodevelopmental disorder with a complex mode of inheritance. It is one of the most highly heritable of the complex disorders, however, the underlying genetic factors remain largely unknown. Here, we report mutations in the X-chromosome PTCHD1 (patched-related) gene, in seven fa...

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Autores principales: Noor, Abdul, Whibley, Annabel, Marshall, Christian R., Gianakopoulos, Peter J., Piton, Amelie, Carson, Andrew R., Orlic-Milacic, Marija, Lionel, Anath, Sato, Daisuke, Pinto, Dalila, Drmic, Irene, Noakes, Carolyn, Senman, Lili, Zhang, Xiaoyun, Mo, Rong, Gauthier, Julie, Crosbie, Jennifer, Pagnamenta, Alistair T., Munson, Jeffrey, Estes, Annette M., Fiebig, Andreas, Franke, Andre, Schreiber, Stefan, Stewart, Alexandre F.R., Roberts, Robert, McPherson, Ruth, Guter, Stephen J., Cook, Edwin H., Dawson, Geraldine, Schellenberg, Gerard D., Battaglia, Agatino, Maestrini, Elena, Jeng, Linda, Hutchison, Terry, Rajcan-Separovic, Evica, Chudley, Albert E., Lewis, Suzanne M.E., Liu, Xudong, Holden, Jeanette, Fernandez, Bridget, Zwaigenbaum, Lonnie, Bryson, Susan E., Roberts, Wendy, Szatmari, Peter, Gallagher, Louise, Stratton, Michael R., Gecz, Jozef, Brady, Angela F., Schwartz, Charles E., Schachar, Russell J., Monaco, Anthony P., Rouleau, Guy A., Hui, Chi-chung, Raymond, F. Lucy, Scherer, Stephen W., Vincent, John B.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2010
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987731/
https://ncbi.nlm.nih.gov/pubmed/20844286
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.3001267
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