Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

著者: Christiane Zweier, Maarit Peippo, Juliane Hoyer, Sérgio B. Sousa, Armand Bottani, Jill Clayton‐Smith, William Reardon, Jorge Saraiva, Alexandra Cabral, Ina Göhring, Koenraad Devriendt, Thomy de Ravel, Emilia K. Bijlsma, Raoul C. M. Hennekam, Alfredo Orrico, Monika Cohen, Alexander Dreweke, André Reis, Peter Nürnberg, Anita Rauch - The American Journal of Human Genetics 2007 被引用: 323