Clinical, ultrastructural and biochemical studies in two sibs with Ehlers-Danlos syndrome type VI-B-like features |
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| Authors: | Gö nü l Our,Nazan Baykan,Anne De,Paepe ,Beat Steinmann,Jozef Quatacker,Faik Kuseyri,Memnune Yü ksel-Apak |
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| Affiliation: | GATA Medical Faculty, Department of Medical Genetics, Etlik, Ankara;Kartal State Hospital, Department of Ophthalmology, Kartal, Istanbul, Turkey;University Hospital Gent, Faculty Center for Medical Genetics, Gent, Belgium;University Children's Hospital, Division of Metabolism, Department of Pediatrics, Zurich, Switzerland;University Hospital Gent, Department of Pathology, Gent, Belgium;University of Istanbul, Institute of Child Health, Division of Medical Genetics, Çapa, Istanbul, Turkey |
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| Abstract: | Two Turkish sibs with clinical features of Ehlers-Danlos syndrome type VI-B are presented. The hydroxylysine contents of dermis and gel electrophoresis of type I and type III collagen produced by fibroblasts were normal. Ultrastructural studies of skin collagen and elastic fibers showed discrete abnormalities. Other syndromes with similar clinical, biochemical and ultrastructural features are discussed. |
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| Keywords: | dermal hydroxylysine Ehlers-Danlos VI ocular fragility |
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