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The first Japanese case of the arthrochalasia type of Ehlers–Danlos syndrome with COL1A2 gene mutation

✍ Scribed by Hatamochi, Atsushi; Hamada, Takahiro; Yoshino, Makoto; Hashimoto, Takashi


Book ID
123541668
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
530 KB
Volume
538
Category
Article
ISSN
0378-1119

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✍ Boris P. Sokolov; Alexander N. Prytkov; Gerard Tromp; Robert G. Knowlton; Darwin 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 580 KB

Ehlers-Danlos syndrome (EDS) type I is a generalized connective tissue disorder, the major manifestations of which are soft, velvety hyperextensible skin and moderately severe joint hypermobility. The gene defect or defects causing EDS type I have not yet been defined, but previous observations sugg