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Article

Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.

BMC medical genomics - 24 Apr 2024

Li Yuanyuan, Chen Yuxue, Sun Yang, Li Shouxin, Dong Lingli, Li Zongzhe, Shen Guifen

Abstract excerpt

BACKGROUND: Waardenburg syndrome type 2 (WS2) has been reported to be a rare hereditary disorder, which is distinguished by vivid blue eyes, varying degrees of hearing impairment, and abnormal pigment deposition in the skin and hair. Variants in the sex-determining region Y-box containing gene 10 (SOXl0) gene may cause congenital deafness and have been demonstrated to be important during the development of WS2....

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Identifiers

PMID: 38659011
DOI: 10.1186/s12920-024-01877-9
PMCID: PMC11040914

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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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Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.PMID 38659011Read ↗

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