Article
[Molecular basis of Hirschsprung disease].
Nihon rinsho. Japanese journal of clinical medicine - 1 Jan 1998
Inoue M, Okada A
Abstract excerpt
Hirschsprung disease (HSCR) is a congenital malformation caused by the absence of ganglion cells in the myenteric and submucosal plexuses of the gut. Recent studies have shown that mutations in the RET, glial-cell-derived neurotrophic factor (GDNF), endothelin-B receptor (EDNRB), endothelin-3 genes are responsible for the occurrence of aganglionosis. Those genes are involved in the development of neural crest...
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