Article
Low RET mutation frequency and polymorphism analysis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan.
Journal of human genetics - 1 Jan 2005
Wu Trang-Tiau, Tsai Tsui-Wei, Chu Chao-Ta, Lee Zen-Fung, Hung Chuan-Mao, Su Ching-Chyuan, Li Shuan-Yow, Hsieh Mingli, Li Chuan
Abstract excerpt
Hirschsprung disease (HSCR), or congenital intestinal aganglionosis, is a relatively common disorder characterized by the absence of ganglion cells in the nerve plexuses of the lower digestive tract, resulting in intestinal obstruction in neonates. Mutations in genes of the RET receptor tyrosine kinase and endothelin receptor B (EDNRB) signaling pathways have been shown to be associated in HSCR patients. In this...
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