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Article

Waardenburg Syndrome: Review of Genotype-Phenotype Relationships in 30 Patients in Hong Kong.

American journal of medical genetics. Part A - 1 Dec 2025

Poon Jennifer Y Y, Yiu W C, Ho Stephanie K L, Cheng Shirley Sze Wing, Luk Ho-Ming, Lo Ivan F M

Abstract excerpt

Waardenburg syndrome (WS) is a genetically heterogeneous auditory-pigmentary disorder with multiple genetic loci. We reported 30 Chinese patients from 19 unrelated families with molecularly confirmed WS, either by single-gene testing, gene panel, or research-based whole-genome sequencing. Their clinical phenotypes were reviewed in comparison with other Chinese cohorts in the literature. The overall diagnostic...

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Source

Identifiers

PMID: 40702859
DOI: 10.1002/ajmg.a.64193

Genes

PAX3
SOX10

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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