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Titel:

Early venous manifestation of Ehlers-Danlos syndrome Type IV through a novel mutation in COL3A1.

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
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:
6
Seitenangaben Beitrag:
488-92
Sprache:
eng
Volltext / DOI:
doi:10.1016/j.carpath.2013.04.003
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/23688910
Print-ISSN:
1054-8807
TUM Einrichtung:
Fachgebiet Gefäßchirurgie (Prof. Eckstein); Institut für Allgemeine Pathologie und Pathologische Anatomie; Institut für Humangenetik
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