A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II
Waardenburg syndrome (WS), also known as auditory-pigmentary syndrome, is the most common cause of syndromic hearing loss. It is responsible for 2–5% of congenital deafness. WS is classified into four types depending on the clinical phenotypes. Currently, pathogenic mutation of PAX3, MITF, EDNRB, ED...
Saved in:
Main Authors: | Sen Chen, Yuan Jin, Le Xie, Wen Xie, Kai Xu, Yue Qiu, Xue Bai, Hui-Min Zhang, Xiao-Zhou Liu, Xiao-Hui Wang, Wei-Jia Kong, Yu Sun |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2020-01-01
|
Series: | Neural Plasticity |
Online Access: | http://dx.doi.org/10.1155/2020/9260807 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Transcript Profiles of Stria Vascularis in Models of Waardenburg Syndrome
by: Linjun Chen, et al.
Published: (2020-01-01) -
Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children
by: Le Xie, et al.
Published: (2021-01-01) -
SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities
by: Michael Zech, et al.
Published: (2017-01-01) -
Therapeutic potential of SOX family transcription factors in osteoarthritis
by: Yue Huang, et al.
Published: (2025-12-01) -
SOX9: a key transcriptional regulator in organ fibrosis
by: Yishuo Li, et al.
Published: (2025-02-01)