Case report: A novel COL3A1 variant in a Colombian patient with isolated cerebrovascular involvement in vascular Ehlers–Danlos syndrome

Case report: A novel COL3A1 variant in a Colombian patient with isolated cerebrovascular involvement in vascular Ehlers–Danlos syndrome

IntroductionTo date, approximately 600 unique pathogenic variants have been reported in COL3A1 associated with vascular Ehlers–Danlos syndrome (vEDS). The objective of this study was to describe a patient with a novel variant in COL3A1 associated with vEDS.Case reportWe describe the clinical history...

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Bibliographic Details
Main Authors: Valeria Valencia-Cifuentes, Stiven Ernesto Sinisterra-Díaz, Valentina Quintana-Peña, Edgar Folleco, José A. Nastasi-Catanese, Harry Pachajoa, Juan P. Fernández-Cubillos
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-03-01
Series:Frontiers in Medicine
Subjects:
vascular Ehlers–Danlos syndrome
COL3A1
intracranial aneurysm
rare disease
Colombia
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2024.1304168/full

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https://www.frontiersin.org/articles/10.3389/fmed.2024.1304168/full

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