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Article

A novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child.

Molecular biology reports - 20 Apr 2024

Li Zhongxia, Xu Ke, Zhou Zhumei, Liang Chi, Gu Weiyue, Ran Jianyu

Abstract excerpt

OBJECTIVES: This study aimed to identify the causative variants in a patient with Waardenburg syndrome (WS) type 2 using whole exome sequencing (WES). METHODS: The clinical features of the patient were collected. WES was performed on the patient and his parents to screen causative genetic variants and Sanger sequencing was performed to validate the candidate mutation. The AlphaFold2 software was used to predict...

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PMID: 38642155
DOI: 10.1007/s11033-024-09469-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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