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Abnormal Retinal Blood Vessels in Ehlers-Danlos Syndrome Type VI

✍ Scribed by Nobuhiko Chikamoto; Shinichiro Teranishi; Tai-ichiro Chikama; Teruo Nishida; Kenji Ohshima; Yoshikazu Hatsukawa


Book ID
106327407
Publisher
Springer
Year
2007
Tongue
English
Weight
176 KB
Volume
51
Category
Article
ISSN
0021-5155

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πŸ“œ SIMILAR VOLUMES


Collagen biosynthesis and isomorphism in
✍ A. Chamson; P. Berbis; J. -F. Fabre; Y. Privat; J. Frey πŸ“‚ Article πŸ“… 1987 πŸ› Springer-Verlag 🌐 English βš– 754 KB

Collagen metabolism was studied in fibroblasts grown from a skin biopsy specimen of a patient who presented the striking clinical features of Ehlers-Danlos syndrome and, in particular, hyperextensibility of the skin, hypermobility of the joints, and kyphoscoliosis. A reduction in lysine hydroxylatio

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The parents of a child with the clinical symptoms of Ehlers-Danlos syndrome type VI were identified as third-degree cousins. Biochemical analysis of the dermis of the patient revealed a complete lack of hydroxylysine in the dermal collagen. The dermis of both parents contained only half the amount o