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Article

Familiar hypopigmentation syndrome in sheep associated with homozygous deletion of the entire endothelin type-B receptor gene.

PloS one - 1 Jan 2012

Lühken Gesine, Fleck Katharina, Pauciullo Alfredo, Huisinga Maike, Erhardt Georg

Abstract excerpt

In humans, rodents and horses, pigmentary anomalies in combination with other disorders, notably intestinal aganglionosis, are associated with variants of the endothelin type-B receptor gene (EDNRB). In an inbred Cameroon sheep flock, five white lambs with light blue eyes were sired from the same ram and died within a few hours up to a few days after birth, some of them with signs of intestinal obstruction. The...

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Source

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Identifiers

PMID: 23300849
DOI: 10.1371/journal.pone.0053020
PMCID: PMC3534075

Genes

EDNRB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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