Article
[Endothelin B receptor system and Hirschsprung disease].
Nihon rinsho. Japanese journal of clinical medicine - 1 Jul 1998
Inoue M, Kusafuka T, Okada A
Abstract excerpt
Hirschsprung disease is a congenital malformation caused by the absence of ganglion cells in the myenteric and submucosal neural plexuses of gut. Mutations in the endothelin-Beta receptor (EDNRB) and endothelin-3(EDN3) genes as well as in the RET, glial-cell-derived neurotrophic factor and sox 10 genes have been shown to be responsible for this disease. These genes are involved in the development of intestinal...
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