Leopard syndrome caused by heterozygous missense mutation of Tyr 279 Cys in the PTPN11 gene in a sporadic case of Chinese Han

2014 ◽  
Vol 174 (3) ◽  
pp. e101-e104 ◽  
Author(s):  
Yan Wang ◽  
Chen Chen ◽  
Dao Wen Wang
Keyword(s):  
Missense Mutation ◽  
Sporadic Case ◽  
Leopard Syndrome ◽  
Chinese Han ◽  
Ptpn11 Gene ◽  
Heterozygous Missense Mutation

A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene

2007 ◽  
Vol 157 (6) ◽  
pp. 1257-1259 ◽  
Author(s):  
P. Coto-Segura ◽  
S. Mallo-Garcia ◽  
M. Costa-Romero ◽  
J.I. Arostegui ◽  
J. Yague ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Early Onset ◽  
Sporadic Case ◽  
Blau Syndrome ◽  
Early Onset Sarcoidosis

Novel missense mutation in DLL4 in a Japanese sporadic case of Adams–Oliver syndrome

2017 ◽  
Vol 62 (9) ◽  
pp. 851-855 ◽  
Author(s):  
Miwako Nagasaka ◽  
Mariko Taniguchi-Ikeda ◽  
Hidehito Inagaki ◽  
Yuya Ouchi ◽  
Daisuke Kurokawa ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Sporadic Case

scholarly journals Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development

2008 ◽  
Vol 18 (1) ◽  
pp. 193-201 ◽  
Author(s):  
Kimihiko Oishi ◽  
Hui Zhang ◽  
William J. Gault ◽  
Cindy J. Wang ◽  
Cheryl C. Tan ◽  
...  
Keyword(s):  
Leopard Syndrome ◽  
Gain Of Function ◽  
Ptpn11 Gene ◽  
Drosophila Development

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
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