Article
Association study of PHOX2B as a candidate gene for Hirschsprung's disease.
Gut - 1 Apr 2003
Garcia-Barceló M, Sham M H, Lui V C H, Chen B L S, Ott J, Tam P K H
Abstract excerpt
BACKGROUND: Hirschsprung's disease (HSCR) is a congenital disorder characterised by an absence of ganglion cells in the nerve plexuses of the lower digestive tract. Manifestation of the disease has been linked to mutations in genes that encode the crucial signals for the development of the enteric nervous system-the RET and EDNRB signalling pathways. The Phox2b gene is involved in neurogenesis and regulates Ret...
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