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Article

[Unilateral sensineural deafness associated with mutations in the PAX3-gene in Waardenburg syndrome type I].

HNO - 1 Jul 2006

Ptok M, Morlot S

Abstract excerpt

Waardenburg syndrome (WS) type 1 occurs due to a mutation in the PAX3-gene on the long arm of chromosome 2. It is an autosomal dominant mutation with highly variable expression and high penetrance. Symptoms include the absence of melanocytes in the skin, hair, eyes and cochlea due to an early developmental disturbance in melancoytes from the neural crest. An inner ear disturbance is characteristic. Here we...

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Source

Identifiers

PMID: 16160809
DOI: 10.1007/s00106-005-1315-1

Genes

PAX3

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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