Article
RET compound inheritance in Chinese patients with Hirschsprung disease: lack of penetrance from insufficient gene dysfunction.
Human genetics - 1 May 2021
Jiang Qian, Wang Yang, Gao Yang, Wang Hui, Zhang Zhen, Li Qi, Xu Shuhua, Cai Wei, Li Long
Abstract excerpt
Hirschsprung disease (HSCR) is a neurocristopathy characterized by the absence of enteric ganglia along variable lengths of the intestine. Genetic defects play a major role in HSCR pathogenesis with nearly 50% of patients having a structural or regulatory deficiency in the major susceptibility gene RET. However, complete molecular defects remain poorly characterized in most patients. Here, we performed detailed...
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