scholarly journals Two closely spaced missense COL3A1 variants in cis cause vascular Ehlers‐Danlos syndrome in one large Chinese family

2021 ◽  
Author(s):  
Mei Liang ◽  
Chong Chen ◽  
Yan Dai ◽  
Yunbing Chang ◽  
Yushun Gao
Keyword(s):  
Chinese Family ◽  
Ehlers Danlos Syndrome ◽  
In Cis ◽  
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 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

Ehlers-Danlos Syndrome, Kyphoscoliotic Type (Formerly Type VI) as Differential Diagnosis to Neuromuscular Diseases

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
M. Schroth ◽  
C. Reihle ◽  
M. Wachowsky ◽  
L. Travan ◽  
M. Buob ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Neuromuscular Diseases ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome
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