Identification of a de novo mutation of SOX10 in a Chinese patient with Waardenburg syndrome type IV

2016 ◽  
Vol 91 ◽  
pp. 67-71 ◽  
Author(s):  
Fenghe Liang ◽  
Min Zhao ◽  
Lynn Fan ◽  
Hongyan Zhang ◽  
Yang Shi ◽  
...  
Keyword(s):  
De Novo ◽  
Chinese Patient ◽  
De Novo Mutation ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Type Iv

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

A de novo SOX10 mutation in a patient with Waardenburg syndrome type IV

2013 ◽  
Vol 68 (6) ◽  
pp. e177-e178 ◽  
Author(s):  
Ho Joo Jung ◽  
Sun A Jin ◽  
Soo Jin Na Choi ◽  
Seung-Chul Lee ◽  
Sook Jung Yun
Keyword(s):  
De Novo ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Type Iv

scholarly journals Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction

2019 ◽  
Vol 22 (5) ◽  
pp. 487 ◽  
Author(s):  
Anthony R. Hogan ◽  
Krishnamurti A. Rao ◽  
Willa L. Thorson ◽  
Holly L. Neville ◽  
Juan E. Sola ◽  
...  
Keyword(s):  
De Novo ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Type Iv ◽  
Intestinal Pseudo Obstruction

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

A De Novo Mutation of STK11 Gene in a Chinese Patient with Peutz–Jeghers Syndrome

2009 ◽  
Vol 55 (4) ◽  
pp. 1032-1036 ◽  
Author(s):  
Ying Gao ◽  
Fa-Ming Zhang ◽  
Shu Huang ◽  
Xiang Wang ◽  
Ping Zhang ◽  
...  
Keyword(s):  
De Novo ◽  
Chinese Patient ◽  
De Novo Mutation ◽  
Stk11 Gene ◽  
Peutz Jeghers Syndrome

scholarly journals Multifocal periapical cement dysplasia in Ehlers-Danlos Typ VIII combined with leukoencephalopathy in de novo-mutation of c.890G>A, G297D [pEDS]

2021 ◽  
Author(s):  
Manfred Nilius ◽  
MInou Nilius ◽  
Charlotte Mueller ◽  
Guenter Lauer ◽  
Berit Koch ◽  
...  
Keyword(s):  
De Novo ◽  
De Novo Mutation ◽  
Joint Mobility ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Viii ◽  
Attached Gingiva ◽  
Skin Fragility ◽  
Danlos Syndrome

Periodontal Ehlers-Danlos syndrome type VIII (pEDS) is rare and caused by mutation in complement 1 subunit. Lack of attached gingiva, pretibial plaques, joint mobility, skin fragility, and easy bruising consolidate the diagnosis. We describe a case of de novo-mutation of pEDS with generalized periapical cemento dysplasia (PCD) and leukoencephalopathy.

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

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

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
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