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Article

A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?

Journal of medical genetics - 1 Mar 2001

Pingault V, Bondurand N, Lemort N, Sancandi M, Ceccherini I, Hugot J P, Jouk P S, Goossens M

Abstract excerpt

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 11303518
DOI: 10.1136/jmg.38.3.205
PMCID: PMC1734825

Genes

EDN3
EDNRB

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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A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?PMID 11303518Read ↗

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