Abnormal Retinal Blood Vessels in Ehlers-Danlos Syndrome Type VI
β 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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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
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