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Article

Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome.

Biochemical and biophysical research communications - 20 May 2011

Jiang Lu, Chen Hongsheng, Jiang Wen, Hu Zhengmao, Mei Lingyun, Xue Jingjie, He Chufeng, Liu Yalan, Xia Kun, Feng Yong

Abstract excerpt

OBJECTIVE: We analyzed the clinical features and family-related gene mutations for the first two Chinese cases of type IV Waardenburg syndrome (WS4). METHODS: Two families were analyzed in this study. The analysis included a medical history, clinical analysis, a hearing test and a physical examination. In addition, the EDNRB, EDN3 and SOX10 genes were sequenced in order to identify the pathogenic mutation...

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Source

Identifiers

PMID: 21531202
DOI: 10.1016/j.bbrc.2011.04.072

Genes

SOX10
EDN3
EDNRB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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