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Article

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).

Nature genetics - 1 Apr 1996

Edery P, Attié T, Amiel J, Pelet A, Eng C, Hofstra R M, Martelli H, Bidaud C, Munnich A, Lyonnet S

Abstract excerpt

Hirschsprung disease (HSCR) and Waardenburg sundrome (WS) are congenital malformations regarded as neurocristopathies since both disorders involve neural crest-derived cells. The WS-HSCR association (Shah-Waardenburg syndrome) is a rare autosomal recessive condition that occasionally has been asc...

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Source

Identifiers

PMID: 8630502
DOI: 10.1038/ng0496-442

Genes

EDN3
EDNRB
RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8630502-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).PMID 8630502Read ↗

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