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Article

Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.

European journal of human genetics : EJHG - 1 Jan 2000

Bidaud C, Salomon R, Van Camp G, Pelet A, Attié T, Eng C, Bonduelle M, Amiel J, Nihoul-Fékété C, Willems P J, Munnich A, Lyonnet S

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 endotheli...

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Source

Identifiers

PMID: 9359047

Genes

EDN3
EDNRB
GDNF
RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-9359047-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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