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Article

Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.

Scientific reports - 19 Oct 2016

Sun Lianhua, Li Xiaohua, Shi Jun, Pang Xiuhong, Hu Yechen, Wang Xiaowen, Wu Hao, Yang Tao

Abstract excerpt

Waardenburg syndrome (WS) characterized by sensorineural hearing loss and pigmentary abnormalities is genetically heterogeneous and phenotypically variable. This study investigated the molecular etiology and genotype-phenotype correlation of WS in 36 Chinese Han deaf probands and 16 additional family members that were clinically diagnosed with WS type I (WS1, n = 8) and type II (WS2, n = 42). Mutation screening...

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Source

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Identifiers

PMID: 27759048
DOI: 10.1038/srep35498
PMCID: PMC5069774

Genes

MITF
SOX10
PAX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.PMID 27759048Read ↗

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Identification of eight novel variants across<i>PAX3, SOX10, EDNRB</i>and<i>MITF</i>genes in Waardenburg syndrome with next-generation sequencingSemantic proximity Read ↗

Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.Semantic proximity Read ↗

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