Article

Endothelin-3 Gene Mutations in Isolated and Syndromic Hirschsprung Disease

1997-01-01

Abstract excerpt

Hirschsprung disease (HSCR, aganglionic megacolon) is a frequent congenital malformation regarded as a multigenic neurocristopathy. Four susceptibility genes have recently been identified in HSCR, namely the RET proto-oncogene, the glial cell line-derived neurotrophic factor (GDNF), the endothelin B receptor (EDNRB) and the endothelin-3 genes (EDN3). Homozygosity for EDN3 mutations has been previously shown to cau...

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Literature Corpus work: 825b12f6-3305-5f8a-8e9c-658f1f7e40f6
DOI: 10.1159/000484771

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