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Article

Mutations of the endothelin-B receptor and endothelin-3 genes in Hirschsprung's disease.

Pediatric surgery international - 1 Jan 1997

Kusafuka T, Puri P

Abstract excerpt

The endothelin-B receptor gene (EDNRB) and the endothelin-3 gene (EDN3) have recently been recognized as susceptibility genes for Hirschsprung's disease (HD). Novel EDNRB mutations have been detected in non-syndromic HD patients with heterozygous forms, and homozygous mutations of the EDNRB or th...

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Source

Identifiers

PMID: 9035203
DOI: 10.1007/BF01194795

Genes

EDNRB
EDN3
RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9035203-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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