Dystrophia canthorum in Waardenburg syndrome with a novel MITF mutation

Dystrophia canthorum in Waardenburg syndrome with a novel MITF mutation

AIM: To reveal a novel MITF gene mutation in Waardenburg syndrome (WS), which is an autosomal dominant inherited neurogenic disorder that consists of various degrees of sensorineural deafness and pigmentary abnormalities in the eyes, hair and skin. METHODS: The genetic analysis of the Chinese famil...

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Bibliographic Details
Main Authors: Xia-Jing Tang, Xi-Yuan Ping, Chen-Qi Luo, Xiao-Ning Yu, Ye-Lei Tang, Xing-Chao Shentu
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2020-07-01
Series:International Journal of Ophthalmology
Subjects:
waardenburg syndrome
gene mitf
dystrophia canthorum
whole-exome sequencing
Online Access:http://ies.ijo.cn/en_publish/2020/7/20200706.pdf

Internet

http://ies.ijo.cn/en_publish/2020/7/20200706.pdf

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