A de novo mutation of the SOX10 gene associated with inner ear malformation in a Guangxi family with Waardenburg syndrome type II

2021 ◽  
Vol 145 ◽  
pp. 110711
Author(s):  
Zhijie Niu ◽  
Yongjing Lai ◽  
Songhua Tan ◽  
Fen Tang ◽  
Xianglong Tang ◽  
...  
Keyword(s):  
Inner Ear ◽  
De Novo ◽  
De Novo Mutation ◽  
Syndrome Type ◽  
Type Ii ◽  
Waardenburg Syndrome ◽  
Inner Ear Malformation ◽  
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

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

Identification of a de novo mutation of SOX10 in a Chinese patient with Waardenburg syndrome type IV

2016 ◽  
Vol 91 ◽  
pp. 67-71 ◽  
Author(s):  
Fenghe Liang ◽  
Min Zhao ◽  
Lynn Fan ◽  
Hongyan Zhang ◽  
Yang Shi ◽  
...  
Keyword(s):  
De Novo ◽  
Chinese Patient ◽  
De Novo Mutation ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Type Iv

A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV

2008 ◽  
Vol 146A (8) ◽  
pp. 1032-1037 ◽  
Author(s):  
Matías Morín ◽  
Antonio Viñuela ◽  
Teresa Rivera ◽  
Manuela Villamar ◽  
Miguel A. Moreno-Pelayo ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Missense Mutation ◽  
De Novo ◽  
Sporadic Case ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Gene Encoding ◽  
Type Iv
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