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Article

Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B).

Human genetics - 1 Aug 1998

Svensson P J, Anvret M, Molander M L, Nordenskjöld A

Abstract excerpt

Hirschsprung disease is a congenital malformation affecting 1 in 5000 live births. The absence of parasympathetic neuronal ganglia (Meissner, Auerbach) in the hindgut results in poor coordination of peristaltic movement, and a varying degree of constipation. Four different genes have been implicated in the pathogenesis of Hirschsprung disease: the RET tyrosine kinase receptor gene; one of its ligands, the glial...

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Source

Identifiers

PMID: 9760196
DOI: 10.1007/s004390050797

Genes

RET
EDNRB
GDNF
EDN3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Advances in molecular genetics of Hirschsprung's disease.Semantic proximity Read ↗

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