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Article

Vascular Ehlers-Danlos syndrome, an often unrecognized clinical entity: a case report of a novel mutation in the COL3A1 gene.

Croatian medical journal - 31 Aug 2022

Huljev Frković Sanda, Slišković Ana Marija, Toivonen Mia, Crkvenac Gregore Andrea, Šutalo Ana, Vrkić Kirhmajer Majda

Abstract excerpt

Due to life-threatening complications, vascular Ehlers-Danlos syndrome (vEDS) is the most severe form of EDS. Because the syndrome is associated with a shortened life expectancy and variable clinical presentation, diagnosis confirmed by genetic testing is crucial to determining appropriate treatment. Despite some distinguishing features, this rare disease often goes unrecognized. Apart from surgical or...

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PMID: 36046937
PMCID: PMC9468738

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