Waardenburg syndrome type IIE in a Japanese patient caused by a novel non-frame-shift duplication mutation in the SOX10 gene

2017 ◽  
Vol 45 (5) ◽  
pp. e110-e111 ◽  
Author(s):  
Ami Hemmi ◽  
Ken Okamura ◽  
Ryushi Tazawa ◽  
Yuko Abe ◽  
Masahiro Hayashi ◽  
...  
Keyword(s):  
Japanese Patient ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Frame Shift ◽  
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

Waardenburg syndrome type IIE in a Japanese patient caused by a novel missense mutation in theSOX10gene

2015 ◽  
Vol 42 (12) ◽  
pp. 1211-1212 ◽  
Author(s):  
Ken Okamura ◽  
Naoki Oiso ◽  
Gen Tamiya ◽  
Satoshi Makino ◽  
Daishi Tsujioka ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Japanese Patient ◽  
Syndrome Type ◽  
Waardenburg Syndrome

Identification and functional analysis of a novel mutation in the SOX10 gene associated with Waardenburg syndrome type IV

Gene ◽  
2014 ◽  
Vol 538 (1) ◽  
pp. 36-41 ◽  
Author(s):  
Hong-Han Wang ◽  
Hong-Sheng Chen ◽  
Hai-Bo Li ◽  
Hua Zhang ◽  
Ling-Yun Mei ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Novel Mutation ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Type Iv ◽  
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

A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2

2012 ◽  
Vol 55 (11) ◽  
pp. 641-645 ◽  
Author(s):  
Elisavet Siomou ◽  
Emmanouil Manolakos ◽  
Michael Petersen ◽  
Loretta Thomaidis ◽  
Yolanda Gyftodimou ◽  
...  
Keyword(s):  
Chromosomal Region ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
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
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