Article
Clinical and genomic evaluation of a Chinese patient with a novel deletion associated with Phelan-McDermid syndrome.
Oncotarget - 6 Dec 2016
Lei Dongzhu, Li Shaoyuan, Banerjee Santasree, Zhang Haoqing, Li Caiyun, Hou Shuai, Chen Danjing, Yan Haiying, Li Hanmei, Peng Huan Huan, Liu Saijun, Zhang Xinxin, Peng Zhiyu, Wang Jian, Yang Huanming, Huang Hui, Wu Jing
Abstract excerpt
Phelan-McDermid syndrome is a neurodevelopmental disorder caused by the terminal deletion of chromosome 22 (22q13) followed by the loss of function of the SHANK3 gene. Various terminal deletions of chromosome 22q13 are associated with Phelan-McDermid with a spectrum of phenotypic severity. Here, we have done a clinical molecular study of a Chinese proband with Phelan-McDermid syndrome. Both the proband and her...
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