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Article

PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1.

Molecular vision - 22 Jun 2010

Wang Juan, Li Shiqiang, Xiao Xueshan, Wang Panfeng, Guo Xiangming, Zhang Qingjiong

Abstract excerpt

PURPOSE: To detect paired box gene 3 (PAX3) mutations and associated phenotypes in Chinese patients with Waardenburg syndrome type 1 (WS1). METHODS: Five unrelated families with suspected WS1 were selected from our Genomic DNA Repository for Hereditary Eye Diseases. The coding and adjacent intronic regions of PAX3 were amplified by polymerase chain reaction and the amplicons were then analyzed by cycle...

Topics

Asian People
Base Sequence
Case-Control Studies
China
DNA Mutational Analysis
Family
Female
Fundus Oculi
Humans
Male
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

PAX3 Transcription Factor

Paired Box Transcription Factors

Pedigree

Phenotype

Waardenburg Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 20664692
PMCID: PMC2901192

Genes

PAX3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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