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Article

[Analysis of genetic characteristics in two Chinese children of type Ⅱ Waardenburg syndrome].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery - 7 Jan 2021

Ma J, Ming C, Lin K, Zhao L P, Bi X Y, Li G, Zhang T S, Ruan B

Abstract excerpt

Objective: To screen and analyze the mutations of MITF gene in two children of type Ⅱ Waardenburg syndrome (WS2) from different families in Yunnan,China,and to explore the possible molecular pathogenesis. Methods: With informed consent, medical history collection, physical examinations, audiological evaluation, and high resolution computer tomography (HRCT) scan of temporal bone were performed on the two WS2...

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Identifiers

PMID: 33472302
DOI: 10.3760/cma.j.cn115330-20200121-00041

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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