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Article

Hirschsprung's disease: genetic mutations in mice and men.

Gut - 1 Oct 1997

Robertson K, Mason I, Hall S

Abstract excerpt

Hirschsprung's disease is a neuronal dysplasia of the hindgut, characterised by a loss of neurones, which affects about 1 in 5000 live births. Genetic factors have been implicated in the aetiology of this disease in about 20% of cases and a dominant pattern of inheritance has been revealed in sev...

Topics

Animals
Chromosomes, Human, Pair 10
Disease Models, Animal
Hirschsprung Disease
Humans
Mice
Mice, Transgenic
Mutation
Superior Cervical Ganglion

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 9391239
DOI: 10.1136/gut.41.4.436
PMCID: PMC1891517

Genes

RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9391239-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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