Article
Exome sequencing identified NRG3 as a novel susceptible gene of Hirschsprung's disease in a Chinese population.
Molecular neurobiology - 1 Jun 2013
Yang Jun, Duan Shengyu, Zhong Rong, Yin Jieyun, Pu Jiarui, Ke Juntao, Lu Xuzai, Zou Li, Zhang Hongmei, Zhu Zhidong, Wang Depeng, Xiao Huasheng, Guo Anyuan, Xia Jiahong, Miao Xiaoping, Tang Shaotao, Wang Guobin
Abstract excerpt
Hirschsprung's disease (HSCR) is a complex developmental defect characterized by the absence of enteric ganglia in the gastrointestinal tract. Although the genetic defect of enteric nervous system (ENS) was identified to play a critical role in the progress of HSCR, the systemic genetic dissection of HSCR still needs to be clarified. In this study, we firstly performed exome sequencing of two HSCR patients from a...
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