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Article

EDNRB/EDN3 and Hirschsprung disease type II.

Pigment cell research - 1 Jun 2001

McCallion A S, Chakravarti A

Abstract excerpt

The study of vertebrate pigmentary anomalies has greatly improved our understanding of melanocyte biology. One such disorder, Waardenburg syndrome (WS), is a mendelian trait characterized by hypopigmentation and sensorineural deafness. It is commonly subdivided into four types (WS1-4), defined by the presence or absence of additional symptoms. WS type 4 (WS4), or Shah-Waardenburg syndrome, is also known as...

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Source

Identifiers

PMID: 11434563
DOI: 10.1034/j.1600-0749.2001.140305.x

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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EDNRB/EDN3 and Hirschsprung disease type II.PMID 11434563Read ↗

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Cell-autonomous and cell non-autonomous signaling through endothelin receptor B during melanocyte development.Semantic proximity Read ↗

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).Semantic proximity Read ↗

Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons.Semantic proximity Read ↗

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