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

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

scholarly journals Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II

2019 ◽  
Vol 33 (4) ◽  
pp. 326-331
Author(s):  
Maan Abdullah Albarry ◽  
Ahdab Qasem Alreheli ◽  
Alia M. Albalawi ◽  
Sulman Basit
Keyword(s):  
Whole Genome ◽  
Syndrome Type ◽  
Chromosome 2 ◽  
Type Ii ◽  
Waardenburg Syndrome
Sign in / Sign up

Export Citation Format

Share Document