Article
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
Science translational medicine - 15 Sept 2010
Noor Abdul, Whibley Annabel, Marshall Christian R, Gianakopoulos Peter J, Piton Amelie, Carson Andrew R, Orlic-Milacic Marija, Lionel Anath C, 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 J, 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, Lucy Raymond F, Scherer Stephen W, Vincent John B
Abstract excerpt
Autism is a common neurodevelopmental disorder with a complex mode of inheritance. It is one of the most highly heritable of the complex disorders, although the underlying genetic factors remain largely unknown. Here, we report mutations in the X-chromosome PTCHD1 (patched-related) gene in seven...
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