Article
Establishment of an induced pluripotent stem cell model of Hirschsrpung disease, a congenital condition of the enteric nervous system, from a patient carrying a novel RET mutation.
Neuroreport - 15 Aug 2018
Wang Yong, Lai Xingqiang, Huang Lihua, Liu Guangjian, Zai Zhicheng, Zhu Deli, Zhang Yan, Liang Zijian, Yao Zhiguang, Chen Yunpei, Wen Zhe, Xia Huimin
Abstract excerpt
Hirschsprung disease (HSCR) is a complex genetic disorder of the enteric nervous system that is characterized by a complete loss of the neuronal ganglion cells in the intestinal tract. It is one of the most frequent causes of congenital intestinal obstruction and more than 80% of the causative mutations are in RET. Here, we identified a new RET mutation in a patient and established a cell model that can be used...
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