Article
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Mar 2011
Shen Yiping, Chen Xiaoli, Wang Liwen, Guo Jin, Shen Jianliang, An Yu, Zhu Haitao, Zhu Yanli, Xin Ruolei, Bao Yihua, Gusella James F, Zhang Ting, Wu Bai-Lin
Abstract excerpt
The 16p11.2 deletion is a recurrent genomic event and a significant risk factor for autism spectrum disorders (ASD). This genomic disorder also exhibits extensive phenotypic variability and diverse clinical phenotypes. The full extent of phenotypic heterogeneity associated with the 16p11.2 deletion disorder and the factors that modify the clinical phenotypes are currently unknown. Multiplex families with deletion...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.