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Vascular Ehlers-Danlos Syndrome, an Often Unrecognized Clinical Entity: A Case Report of a Novel Mutation in the COL3A1 Gene

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

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

Croat Med J. 2022 Aug 31;63(4):394-398. doi: 10.3325/cmj.2022.63.394.

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

Specialties: cardiology, cardiovascular disease, endocrinology, genetics