A Chinese family with periodontal Ehlers-Danlos syndrome associated with missense mutation in the C1R gene

2018 ◽  
Vol 45 (11) ◽  
pp. 1311-1318
Author(s):  
Juan Wu ◽  
Jie Yang ◽  
Jie Zhao ◽  
Jingrong Wu ◽  
Xuan Zhang ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Chinese Family ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Novel missense mutation in theCOL3A1gene caused vascular Ehlers-Danlos syndrome in a Chinese family

2014 ◽  
Vol 42 (1) ◽  
pp. 95-96
Author(s):  
Fang He ◽  
Xianwei Wang ◽  
Xinzhang Cai ◽  
Hao Peng ◽  
Lusi Zhang ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Chinese Family ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

scholarly journals A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome

2016 ◽  
Vol 3 (1) ◽  
Author(s):  
Miki Watanabe ◽  
Ryuji Nakagawa ◽  
Takuya Naruto ◽  
Tomohiro Kohmoto ◽  
Ken-ichi Suga ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome

2017 ◽  
Vol 45 (3) ◽  
pp. 370-371
Author(s):  
Dandan Mao ◽  
Zhanglei Mu ◽  
Yue Yang ◽  
Leqing Cao ◽  
Qianxi Xu ◽  
...  
Keyword(s):  
Chinese Family ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type

2004 ◽  
Vol 128A (1) ◽  
pp. 39-45 ◽  
Author(s):  
Muhammad Faiyaz-Ul-Haque ◽  
Syed Hassan Ejaz Zaidi ◽  
Mariam Al-Ali ◽  
Mariam S. Al-Mureikhi ◽  
Shelley Kennedy ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome ◽  
Galactosyltransferase I
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