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Article

Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.

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

Pingault Veronique, Pierre-Louis Laurence, Chaoui Asma, Verloes Alain, Sarrazin Elisabeth, Brandberg Goran, Bondurand Nadege, Uldall Peter, Manouvrier-Hanu Sylvie

Abstract excerpt

Waardenburg syndrome (WS) is characterized by an association of pigmentation abnormalities and sensorineural hearing loss. Four types, defined on clinical grounds, have been delineated, but this phenotypic classification correlates imperfectly with known molecular anomalies. SOX10 mutations have been found in patients with type II and type IV WS (i.e., with Hirschsprung disease), more complex syndromes, and...

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Identifiers

PMID: 24845202
DOI: 10.1002/ajmg.a.36612
PMCID: PMC5225272

Genes

SOX10
RET

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.PMID 24845202Read ↗

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