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Article

[Mutations of the endothelin-3 gene in isolated and syndromic forms of Hirschsprung disease].

Gastroenterologie clinique et biologique - 1 Jan 1997

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

Abstract excerpt

AIMS AND METHODS: Hirschsprung's disease is a frequent congenital malformation regarded as a multigenic neurocristopathy. Three susceptibility genes have been identified in Hirschsprung's disease, namely the RET proto-oncogene, the Glial cell line-Derived Neurotrophic Factor and the endothelin B...

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Source

Identifiers

PMID: 9587491

Genes

EDN3
RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9587491-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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