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Article

Targeted next-generation sequencing identified a novel variant of SOX10 in a Chinese family with Waardenburg syndrome type 2.

The Journal of international medical research - 1 Nov 2020

Liu Xiao-Wen, Wang Su-Yang, Xing Zhan-Kui, Zhu Yi-Ming, Ding Wen-Juan, Duan Lei, Cui Xiao, Xu Bai-Cheng, Li Shu-Juan, Guo Yu-Fen

Abstract excerpt

OBJECTIVE: Waardenburg syndrome type 2 (WS2) is an autosomal dominant syndrome, characterized by bright blue eyes, hearing loss, and depigmented patches of hair and skin. It exhibits high phenotypic and genetic heterogeneity. We explored the molecular etiology in a Chinese family with WS2. METHODS: We recruited a three-generation family with three affected members. Medical history was obtained from all family...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33251892
DOI: 10.1177/0300060520967540
PMCID: PMC7708717

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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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