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Dokumenttyp:
journal article 
Autor(en):
Wendorff, H; Pelisek, J; Zimmermann, A; Mayer, K; Seidel, H; Weirich, G; Hausser, I; Siegel, C; Zernecke, A; Eckstein, HH 
Titel:
Early venous manifestation of Ehlers-Danlos syndrome Type IV through a novel mutation in COL3A1. 
Abstract:
Ehlers-Danlos syndrome (EDS) leads to abnormalities in the synthesis of collagen and complications involving arterial vessels. We describe here a mutation in the intron 14 of the COL3A1 gene leading to EDS Type IV (EDS IV) associated with venous manifestations only. The patient, an 18-year-old male, suffered from truncal varicosity of the long saphenous vein on both sides. Conventional stripping surgery of the left saphenous vein revealed an extremely vulnerable ectatic superficial femoral vein....    »
 
Zeitschriftentitel:
Cardiovasc Pathol 
Jahr:
2013 
Band / Volume:
22 
Heft / Issue:
Seitenangaben Beitrag:
488-92 
Sprache:
eng 
Print-ISSN:
1054-8807 
TUM Einrichtung:
Klinik für Gefäßchirurgie; Institut für Humangenetik; Institut für Allgemeine Pathologie und pathologische Anatomie