Article
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.
Circulation. Genomic and precision medicine - 1 Jun 2024
Demirdas Serwet, van den Bersselaar Lisa M, Lechner Rosan, Bos Jessica, Alsters Suzanne I M, Baars Marieke J H, Baas Annette F, Baysal Özlem, van der Crabben Saskia N, Dulfer Eelco, Giesbertz Noor A A, Helderman-van den Enden Apollonia T J M, Hilhorst-Hofstee Yvonne, Kempers Marlies J E, Komdeur Fenne L, Loeys Bart, Majoor-Krakauer Daniëlle, Ockeloen Charlotte W, Overwater Eline, van Tintelen Peter J, Voorendt Marsha, de Waard Vivian, Maugeri Alessandra, Brüggenwirth Hennie T, van de Laar Ingrid M B H, Houweling Arjan C
Abstract excerpt
BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in COL3A1. The aim of this cohort study is to provide further insights into the natural history of vEDS and describe genotype-phenotype correlations in a Dutch multicenter cohort to optimize patient care and increase awareness...
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