Associated Papers
From Atherosclerosis to Spontaneous Coronary Artery Dissection: Defining a Clinical and Genetic Risk Spectrum for Myocardial Infarction.
Katz AE et al.
Current Atherosclerosis Reports, 2024
Iliac artery dissection and rupture in a patient with classic Ehlers-Danlos syndrome due to COL5A1 null variant.
Pujari A et al.
Journal of Vascular Surgery Cases and Innovative Techniques, 2024
Advancements in the Genetics of Spontaneous Coronary Artery Dissection.
Katz AE et al.
Current Cardiology Reports, 2023
Fibromuscular Dysplasia: Three Cases to Highlight a Requirement for Surveillance Strategy Optimization.
Tran A et al.
Cureus, 2023
Cerebral Infarction and Recovery in a 12-Year-Old Child With Intracranial Fibromuscular Dysplasia.
Kim MH et al.
Brain & Neurorehabilitation, 2023
Letter to the Editor Regarding Lavanya et al. A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features.
Wang Y et al.
American Journal of Medical Genetics. Part A, 2022
The complex genetic basis of fibromuscular dysplasia, a systemic arteriopathy associated with multiple forms of cardiovascular disease.
Georges A et al.
Clinical Science (london, England : 1979), 2022
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome.
Colman M et al.
Human Mutation, 2021
A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia.
Richer J et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2020
Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.
McElroy A et al.
Journal of Veterinary Internal Medicine, 0
37594181 (PubMed )
Supplement: JVIM-37-1716-s005.xlsx › ST2A-ClinVar_COL5A1
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