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Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing.

Molecular genetics & genomic medicine - 1 Mar 2020

Ren Shumin, Chen Xiaojie, Kong Xiangdong, Chen Yibing, Wu Qinghua, Jiao Zhihui, Shi Huirong

Abstract excerpt

BACKGROUND: Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory-pigmentary syndrome characterized by nonprogressive sensorineural hearing loss and iris discoloration. This study aimed to investigate the underlying molecular pathology in Chinese WS families. METHODS: A total of 13 patients with Waardenburg syndrome type II (WS2) from six unrelated Chinese families were enrolled....

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Identifiers

PMID: 31960627
DOI: 10.1002/mgg3.1128
PMCID: PMC7057110

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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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