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Article

A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease.

Human molecular genetics - 1 Jun 1998

Yang G C, Croaker D, Zhang A L, Manglick P, Cartmill T, Cass D

Abstract excerpt

Lethal white foal syndrome (LWFS) is a congenital anomaly of horses characterized by a white coat colour and aganglionosis of the bowel, which is similar to Hirschsprung disease (HSCR). We decided to investigate possible mutations of the endothelin-B receptor gene ( EDNRB ) in LWFS as recent studies in mutant rodents and some patients have demonstrated EDNRB defects. First, we identified a full-length cDNA for...

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

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Source

Identifiers

PMID: 9580670
DOI: 10.1093/hmg/7.6.1047

Genes

EDNRB
EDNRA

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.

Related research

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Research trail→

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A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease.PMID 9580670Read ↗

A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung disease.Semantic proximity Read ↗

Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses.Semantic proximity Read ↗

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Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease.Semantic proximity Read ↗

Validation of high-resolution melting analysis as a diagnostic tool for endothelin receptor B mutation in American Paint horses and allele frequency estimation.Semantic proximity Read ↗

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.Semantic proximity Read ↗

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Incidence of the endothelin receptor B mutation that causes lethal white foal syndrome in white-patterned horses.Semantic proximity Read ↗

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