scholarly journals A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type�II

2019 ◽  
Author(s):  
Jing Ma ◽  
Zhen Zhang ◽  
Hong‑Chao Jiang ◽  
Hao Sun ◽  
Cheng Ming ◽  
...  
Keyword(s):  
Chinese Family ◽  
Syndrome Type ◽  
Type Ii ◽  
Waardenburg Syndrome ◽  
Dominant Mutation ◽  
Sox10 Gene

De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II

2014 ◽  
Vol 78 (6) ◽  
pp. 926-929 ◽  
Author(s):  
Kaitian Chen ◽  
Ling Zong ◽  
Min Liu ◽  
Yuan Zhan ◽  
Xuan Wu ◽  
...  
Keyword(s):  
De Novo ◽  
Chinese Family ◽  
Syndrome Type ◽  
Type Ii ◽  
Waardenburg Syndrome ◽  
Dominant Mutation ◽  
Sox10 Gene

Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene

2016 ◽  
Vol 85 ◽  
pp. 56-61 ◽  
Author(s):  
Jing Ma ◽  
Tie-Song Zhang ◽  
Ken Lin ◽  
Hao Sun ◽  
Hong-Chao Jiang ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Chinese Patient ◽  
Syndrome Type ◽  
Type Ii ◽  
Waardenburg Syndrome ◽  
Sox10 Gene

scholarly journals A follow‐up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene

2020 ◽  
Vol 8 (12) ◽  
Author(s):  
Shuzhi Yang ◽  
Cuicui Wang ◽  
Chengyong Zhou ◽  
DongYang Kang ◽  
Xin Zhang ◽  
...  
Keyword(s):  
Chinese Family ◽  
Syndrome Type ◽  
Type Ii ◽  
Waardenburg Syndrome ◽  
Follow Up Study ◽  
Truncating Mutation

Novel variants in EDNRB gene in Waardenburg syndrome type II and SOX10 gene in PCWH syndrome

2021 ◽  
Vol 140 ◽  
pp. 110499
Author(s):  
Lukas Varga ◽  
Daniel Danis ◽  
Jakub Drsata ◽  
Ivica Masindova ◽  
Martina Skopkova ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Type Ii ◽  
Waardenburg Syndrome ◽  
Novel Variants ◽  
Ednrb Gene ◽  
Sox10 Gene

Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV

2017 ◽  
Vol 102 ◽  
pp. 114-118 ◽  
Author(s):  
Xueling Wang ◽  
Xiao-Jiang Lin ◽  
Xiangrong Tang ◽  
Yong-Chuan Chai ◽  
De-Hong Yu ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Usher Syndrome ◽  
Chinese Family ◽  
Syndrome Type ◽  
Type Ii ◽  
Waardenburg Syndrome ◽  
Type Iv ◽  
Usher Syndrome Type

A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II

2011 ◽  
Vol 38 (12) ◽  
pp. 585-591 ◽  
Author(s):  
Xukun Yan ◽  
Tianyu Zhang ◽  
Zhengmin Wang ◽  
Yi Jiang ◽  
Yan Chen ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Syndrome Type ◽  
Type Ii ◽  
Waardenburg Syndrome ◽  
Gjb2 Mutations
Sign in / Sign up

Export Citation Format

Share Document