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Article

Arterial complications in classical Ehlers-Danlos syndrome: a case series.

Journal of medical genetics - 1 Nov 2020

Angwin Chloe, Brady Angela F, Pope F Michael, Vandersteen Anthony, Baker Duncan, Cheema Harveer, Sobey Glenda, Johnson Diana, von Klemperer Kate, Kazkaz Hanadi, van Dijk Fleur, Ghali Neeti

Abstract excerpt

BACKGROUND: The Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders with several recognised types. Patients with a type of EDS have connective tissue abnormalities resulting in a varying degree of joint hypermobility, skin and vascular fragility and generalised tissue friability. Classical EDS (cEDS) typically occurs as a result of dominant pathogenic variants in COL5A1 or COL5A2. The...

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Identifiers

PMID: 32467296
DOI: 10.1136/jmedgenet-2019-106689

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