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Article

Novel mutations of SOX10 gene in Chinese patients with type II Waardenburg syndrome.

International journal of pediatric otorhinolaryngology - 1 Sept 2020

Chen Dingli, Li Shouxia, Li Shurui, Song Xuedong, Guo Lili, Zhang Xiaofang, Sun Caixia, Zhao Subin

Abstract excerpt

Waardenburg Syndrome (WS) is a condition characterized by sensorineural deafness and pigment disturbances of the skin, hair and iris. By using the latest genomics technology, the WS-related gene mutations and corresponding mechanisms have been widely studied and reported. and the high genetic heterogeneity of the disease has also been explained. However, the SOX10 gene transcription and expression has still be...

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PMID: 32580110
DOI: 10.1016/j.ijporl.2020.110172

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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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