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Article

[Phenotypic and genetic analysis of a patient presented with Tietz/Waardenburg type II a syndrome].

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

Wang Huanhuan, Tang Lifang, Zhang Jingmin, Hu Qin, Chen Yingwei, Xiao Bing

Abstract excerpt

OBJECTIVE: To determine the genetic cause for a patient featuring decreased pigmentation of the skin and iris, hearing loss and multiple congenital anomalies. METHODS: Routine chromosomal banding was performed to analyze the karyotype of the patient and his parents. Single nucleotide polymorphism array (SNP array) was employed to identify cryptic chromosome aberrations, and quantitative real-time PCR was used to...

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Source

Identifiers

PMID: 26252099
DOI: 10.3760/cma.j.issn.1003-9406.2015.04.016

Genes

MITF

Provenance

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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