scholarly journals Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family

2015 ◽  
Vol 4 (1) ◽  
pp. 49-53 ◽  
Author(s):  
Xianlong Shi ◽  
Yanqin Lu ◽  
Yanzhou Wang ◽  
Yu-ang Zhang ◽  
Yuanwei Teng ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

scholarly journals First Mouse Model for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome

2014 ◽  
Vol 29 (6) ◽  
pp. 1412-1423 ◽  
Author(s):  
Frieda Chen ◽  
Ruolin Guo ◽  
Shousaku Itoh ◽  
Luisa Moreno ◽  
Esther Rosenthal ◽  
...  
Keyword(s):  
Mouse Model ◽  
Osteogenesis Imperfecta ◽  
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 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

Heritable Disorders of Connective Tissue

PEDIATRICS ◽  
1957 ◽  
Vol 19 (6) ◽  
pp. 1160-1161
Author(s):  
JAMES V. NEEL
Keyword(s):  
Connective Tissue ◽  
Osteogenesis Imperfecta ◽  
Chronic Diseases ◽  
Marfan Syndrome ◽  
Pseudoxanthoma Elasticum ◽  
Hurler Syndrome ◽  
Ehlers Danlos Syndrome ◽  
Hereditary Syndromes ◽  
Danlos Syndrome

The contents of this book first appeared as a series of papers in the Journal of Chronic Diseases from November, 1955, through May, 1956. These papers, with additions, have now been collected into a volume which is an excellent summary of the heritable disorders of connective tissue. After brief introductory chapters dealing with some general characteristics of hereditary syndromes, and with the biology of normal connective tissue, the author devotes successive chapters to the Marfan syndrome, the Ehlers-Danlos syndrome, osteogenesis imperfecta, pseudoxanthoma elasticum, and the Hurler syndrome.

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