CLINICAL, ULTRASTRUCTURAL AND BIOCHEMICAL-STUDIES IN 2 SIBS WITH EHLERS-DANLOS-SYNDROME TYPE-VI-B-LIKE FEATURES

OGUR G., BAYKAN N., DEPAEPE A., STEINMANN B., QUATACKER J., KUSEYRI F., ...Daha Fazla

CLINICAL GENETICS, cilt.46, sa.6, ss.417-422, 1994 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 46 Sayı: 6
  • Basım Tarihi: 1994
  • Dergi Adı: CLINICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.417-422
  • İstanbul Üniversitesi Adresli: Hayır

Özet

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.