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Article

Three cases of Waardenburg syndrome type 2 in a Korean family.

Korean journal of ophthalmology : KJO - 1 Dec 2004

Choi Joong Hyuk, Moon Sung-Kyun, Lee Ki Hwang, Lew Ho Min, Chang Yoon-Hee

Abstract excerpt

Waardenburg syndrome (WS) is a rare, autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary disturbances of the skin, hair, and iris, and other developmental defects such as lateral displacement of both medial canthi and lacrimal puncta called dystopia canthorum. While mutations of the PAX3 (paired box) gene have been identified in about 99% of WS type 1 cases, WS type 2 is a...

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Source

Identifiers

PMID: 15635834
DOI: 10.3341/kjo.2004.18.2.185

Genes

MITF
PAX3

Provenance

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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