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Article

A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2.

The journal of international advanced otology - 1 Jun 2023

Guo Min, Li Qing, Jiang Chaowu, Li Shuling, Ruan Biao

Abstract excerpt

Waardenburg syndrome is an autosomal dominant inherited syndromic hereditary hearing loss characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and inner ear. The aim of this study was to analyze the clinical phenotypes and genetic variants of a Chinese boy with Waardenburg syndrome type 2 and to explore the possible molecular pathogenesis of Waardenburg...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 37272645
DOI: 10.5152/iao.2023.22745
PMCID: PMC10331715

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2.PMID 37272645Read ↗

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

A Novel Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type IVSemantic proximity Read ↗

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A de novo mutation of the SOX10 gene associated with inner ear malformation in a Guangxi family with Waardenburg syndrome type II.Semantic proximity Read ↗

A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV.Semantic proximity Read ↗

Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene.Semantic proximity Read ↗

A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II.Semantic proximity Read ↗

Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype AnalysisSemantic proximity Read ↗

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

A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4.Semantic proximity Read ↗

Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.Semantic proximity Read ↗

A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.Semantic proximity Read ↗

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