对两名具有VI-B型埃勒斯-当洛综合征样特征的同胞进行的临床、超微结构和生化研究。
Clinical, ultrastructural and biochemical studies in two sibs with Ehlers-Danlos syndrome type VI-B-like features.
作者信息
Oğur G, Baykan N, De Paepe A, Steinmann B, Quatacker J, Kuseyrí F, Yüksel-Apak M
机构信息
GATA Medical Faculty, Department of Medical Genetics, Etlik, Ankara, Turkey.
出版信息
Clin Genet. 1994 Dec;46(6):417-22. doi: 10.1111/j.1399-0004.1994.tb04409.x.
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.
本文报告了两名具有Ⅵ - B型埃勒斯-当洛综合征临床特征的土耳其同胞。真皮中羟赖氨酸含量以及成纤维细胞产生的Ⅰ型和Ⅲ型胶原蛋白的凝胶电泳结果均正常。对皮肤胶原蛋白和弹性纤维的超微结构研究显示出离散性异常。文中还讨论了具有相似临床、生化和超微结构特征的其他综合征。
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