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

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

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

A novel missense mutation Ile59Asn in the PAX3 in family with Waardenburg syndrome type 1

1999 ◽  
Vol 13 (1) ◽  
pp. 85-85
Author(s):  
T.G. Markova ◽  
S.P. Shevtsov ◽  
L.N. Moskolenko ◽  
A.A. Lantsov ◽  
E.I. Schwartz
Keyword(s):  
Missense Mutation ◽  
Syndrome Type ◽  
Waardenburg Syndrome

scholarly journals Hearing dysfunction in heterozygousMitfMi-wh/+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome

2012 ◽  
Vol 26 (1) ◽  
pp. 78-87 ◽  
Author(s):  
Christina Ni ◽  
Deming Zhang ◽  
Lisa A. Beyer ◽  
Karin E. Halsey ◽  
Hideto Fukui ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Waardenburg Syndrome

Three novelPAX3 mutations observed in patients with Waardenburg syndrome type 1

1997 ◽  
Vol 9 (2) ◽  
pp. 177-180 ◽  
Author(s):  
Hidenobu Soejima ◽  
Masahiro Fujimoto ◽  
Kazuhiro Tsukamoto ◽  
Naomichi Matsumoto ◽  
Koh-Ichiro Yoshiura ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Waardenburg Syndrome

A homozygous MITF mutation leads to familial Waardenburg syndrome type 4

2018 ◽  
Vol 179 (2) ◽  
pp. 243-248 ◽  
Author(s):  
Xiuhong Pang ◽  
Xiaoyong Zheng ◽  
Xuhui Kong ◽  
Yongchuan Chai ◽  
Yu Wang ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Waardenburg Syndrome
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