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Article

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

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology - 1 Jan 2000

Wendorff Heiko, Pelisek Jaroslav, Zimmermann Alexander, Mayer Karin, Seidel Heide, Weirich Gregor, Hausser Ingrid, Siegel Corinna, Zernecke Alma, Eckstein Hans-Henning

Abstract excerpt

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...

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PMID: 23688910
DOI: 10.1016/j.carpath.2013.04.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Early venous manifestation of Ehlers-Danlos syndrome Type IV through a novel mutation in COL3A1.PMID 23688910Read ↗

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