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...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Press of International Journal of Ophthalmology (IJO PRESS)
2020-07-01
|
| Series: | International Journal of Ophthalmology |
| Subjects: | |
| Online Access: | http://ies.ijo.cn/en_publish/2020/7/20200706.pdf |