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Article

Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain.

American journal of medical genetics. Part A - 1 Feb 2014

Fernández Raquel M, Núñez-Ramos Raquel, Enguix-Riego M Valle, Román-Rodríguez Francisco José, Galán-Gómez Enrique, Blesa-Sánchez Emilio, Antiñolo Guillermo, Núñez-Núñez Ramón, Borrego Salud

Abstract excerpt

Shah-Waardenburg syndrome or Waardenburg syndrome type 4 (WS4) is a neurocristopathy characterized by the association of deafness, depigmentation and Hirschsprung disease. Three disease-causing genes have been identified so far for WS4: EDNRB, EDN3, and SOX10. SOX10 mutations, found in 45-55% of WS4 patients, are inherited in autosomal dominant way. In addition, mutations in SOX10 are also responsible for an...

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Source

Identifiers

PMID: 24311220
DOI: 10.1002/ajmg.a.36302

Genes

SOX10
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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