[From monogenic to polygenic: model of Hirschsprung disease].

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Article

[From monogenic to polygenic: model of Hirschsprung disease].

Pathologie-biologie - 1 Nov 1998

Salomon R, Amiel J, Attié T, Pelet A, Munnich A, Lyonnet S

Abstract excerpt

Hirschsprung's disease (HSCR, aganglionic megacolon) is a frequent congenital malformation regarded as a multigenic neurocristopathy. Three susceptibility genes have been recently identified in HSCR, namely the RET proto-oncogene, the endothelin B receptor (EDNRB) gene, and the endothelin 3 (EDN3...

Topics

Animals
Drosophila Proteins
Endothelin-3
Glial Cell Line-Derived Neurotrophic Factor Receptors
Hirschsprung Disease
Humans
Mice
Multigene Family
Mutation
Proto-Oncogene Mas
Proto-Oncogene Proteins
Proto-Oncogene Proteins c-ret
Receptor Protein-Tyrosine Kinases
Receptor, Endothelin B
Receptors, Endothelin

Source

Open in PubMed

Identifiers

PMID: 9885824

Genes

EDN3
EDNRB
RET
GDNF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9885824-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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