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

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 Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing

2020 ◽  
Vol 8 (3) ◽  
Author(s):  
Shumin Ren ◽  
Xiaojie Chen ◽  
Xiangdong Kong ◽  
Yibing Chen ◽  
Qinghua Wu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Syndrome Type ◽  
Type Ii ◽  
Waardenburg Syndrome ◽  
Next Generation ◽  
Novel Variants ◽  
Generation Sequencing

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
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