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Article

Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population.

Human molecular genetics - 1 Mar 1996

Auricchio A, Casari G, Staiano A, Ballabio A

Abstract excerpt

Hirschsprung disease (HSCR), or aganglionic megacolon, is the most common cause of congenital intestinal obstruction. Two different loci have been found to be tightly linked to HSCR on chromosomes 10 and 13, respectively. Recently, mutations in the RET protooncogene on chromosome 10q11.2 were identified in several HSCR patients. In addition, a missense mutation in the endothelin-B receptor (EDNRB) gene on...

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Source

Identifiers

PMID: 8852659
DOI: 10.1093/hmg/5.3.351

Genes

EDNRB
RET

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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