Associated Papers
Whole aorta imaging shows increased risk for thoracic aortic aneurysms and dilatations in relatives of abdominal aortic aneurysm patients.
Liu H et al.
Journal of Vascular Surgery, 2025
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.
Demirdas S et al.
Circulation. Genomic and Precision Medicine, 2024
38623759 (PubMed )
Supplement: hcg-17-e003978-s001.pdf
Endovascular repair of a common iliac artery aneurysm with an iliac branch device in a patient with vascular Ehlers-Danlos syndrome due to a null COL3A1 variant.
Shalhub S et al.
Journal of Vascular Surgery Cases and Innovative Techniques, 2023
Assessment of arterial damage in vascular Ehlers-Danlos syndrome: A retrospective multicentric cohort.
Adham S et al.
Frontiers in Cardiovascular Medicine, 2022
36262204 (PubMed )
Supplement: Table_1.XLSX › Feuil1
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater E et al.
Human Mutation, 2018
COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy.
Leistritz DF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.
Plancke A et al.
European Journal of Human Genetics : Ejhg, 2009
Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.
Schwarze U et al.
American Journal of Human Genetics, 2001
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