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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 several families. The pathogenesis of the aganglionosis is often attributed to a failure of migration of neural crest...

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Identifiers

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

Genes

RET

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