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Article

[Clinical classification and genetic mutation study of two pedigrees with type II Waardenburg syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2015

Chen Yong, Yang Fuwei, Zheng Hexin, Zhu Ganghua, Hu Peng, Wu Weijing

Abstract excerpt

OBJECTIVE: To explore the molecular etiology of two pedigrees affected with type II Waardenburg syndrome (WS2) and to provide genetic diagnosis and counseling. METHODS: Blood samples were collected from the proband and his family members. Following extraction of genomic DNA, the coding sequences of PAX3, MITF, SOX10 and SNAI2 genes were amplified with PCR and subjected to DNA sequencing to detect potential...

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Source

Identifiers

PMID: 26663054
DOI: 10.3760/cma.j.issn.1003-9406.2015.06.012

Genes

MITF
PAX3
SNAI2
SOX10

Variants

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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