Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome

2011 ◽  
Vol 408 (4) ◽  
pp. 620-624 ◽  
Author(s):  
Lu Jiang ◽  
Hongsheng Chen ◽  
Wen Jiang ◽  
Zhengmao Hu ◽  
Lingyun Mei ◽  
...  
Keyword(s):  
Waardenburg Syndrome ◽  
Novel Mutations ◽  
Type Iv ◽  
Sox10 Gene

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 mutations of SOX10 gene in Chinese patients with type II Waardenburg syndrome

2020 ◽  
Vol 136 ◽  
pp. 110172
Author(s):  
Dingli Chen ◽  
Shouxia Li ◽  
Shurui Li ◽  
Xuedong Song ◽  
Lili Guo ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Type Ii ◽  
Waardenburg Syndrome ◽  
Novel Mutations ◽  
Sox10 Gene

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

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder

2010 ◽  
Vol 33 (S3) ◽  
pp. 83-90 ◽  
Author(s):  
Sing-Chung Li ◽  
Chiao-Ming Chen ◽  
Jennifer L. Goldstein ◽  
Jer-Yuarn Wu ◽  
Emmanuelle Lemyre ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Novel Mutations ◽  
Type Iv

A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3

2007 ◽  
Vol 20 (3) ◽  
pp. 210-215 ◽  
Author(s):  
Ivana Matera ◽  
Jody L. Cockroft ◽  
Jennifer L. Moran ◽  
David R. Beier ◽  
Dan Goldowitz ◽  
...  
Keyword(s):  
Mouse Model ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Induced Mutation ◽  
Type Iv ◽  
Endothelin 3

Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IV

2010 ◽  
Vol 152A (7) ◽  
pp. 1841-1843 ◽  
Author(s):  
Hanan E. Shamseldin ◽  
Zuhair Rahbeeni ◽  
Fowzan S. Alkuraya
Keyword(s):  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Type Iv ◽  
Endothelin 3 ◽  
Activation Site

Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome

2011 ◽  
Vol 39 (1) ◽  
pp. 785-788 ◽  
Author(s):  
Raheela Jabeen ◽  
Masroor Ellahi Babar ◽  
Jamil Ahmad ◽  
Ali Raza Awan
Keyword(s):  
Receptor Gene ◽  
Waardenburg Syndrome ◽  
Novel Mutations ◽  
Endothelin B Receptor ◽  
Endothelin B

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
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