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

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

scholarly journals Waardenburg syndrome type I

2017 ◽  
Vol 0 (0) ◽  
pp. 0
Author(s):  
VirendraN Sehgal ◽  
Pardeep Venkatesh
Keyword(s):  
Type I ◽  
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

PAX3 and Waardenburg Syndrome Type 1

2016 ◽  
pp. 781-784
Author(s):  
Kirby A. Ziegler ◽  
Gareth N. Corry ◽  
D. Alan Underhill
Keyword(s):  
Syndrome Type ◽  
Waardenburg Syndrome
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