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Article

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.

Human molecular genetics - 1 Sept 1998

Doray B, Salomon R, Amiel J, Pelet A, Touraine R, Billaud M, Attié T, Bachy B, Munnich A, Lyonnet S

Abstract excerpt

Hirschsprung disease (HSCR) is a frequent neurocristopathy characterized by the absence of submucosal and myenteric plexuses in a variable length of the gastrointestinal tract. Pedigrees and segregation analyses suggested the involvement of one or several dominant genes with low penetrance in HSCR. Considering that RET and glial cell line-derived neurotrophic factor (GDNF) mutations have been reported in the...

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Identifiers

PMID: 9700200
DOI: 10.1093/hmg/7.9.1449

Genes

RET
GDNF

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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Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.PMID 9700200Read ↗

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