Vascular Ehlers-Danlos Syndrome:A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients
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 of the disease. METHODS: Individuals with vEDS throughout the Netherlands were included. The phenotype was charted by retrospective analysis of molecular and clinical data, combined w... Mehr ...
| Verfasser: |
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 |
| Dokumenttyp: |
Artikel |
| Erscheinungsdatum: |
2024 |
| Reihe/Periodikum: |
Demirdas , S , van den Bersselaar , L M , Lechner , R , Bos , J , Alsters , S I M , Baars , M J H , Baas , A F , Baysal , Ö , van der Crabben , S N , Dulfer , E , Giesbertz , N A A , Helderman-van den Enden , A T J M , Hilhorst-Hofstee , Y , Kempers , M J E , Komdeur , F L , Loeys , B , Majoor-Krakauer , D , Ockeloen , C W , Overwater , E , van Tintelen , P J , Voorendt , M , de Waard , V , Maugeri , A , Brüggenwirth , H T , van de Laar , I M B H & Houweling , A C 2024 , ' Vascular Ehlers-Danlos Syndrome : A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients ' , Circulation. Genomic and precision medicine , vol. 17 , no. 3 , pp. e003978 . https://doi.org/10.1161/CIRCGEN.122.003978 |
| Sprache: |
Englisch |
| Permalink: |
https://search.fid-benelux.de/Record/base-29048183 |
| Datenquelle: |
BASE;
Originalkatalog |
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BASE |
| Link(s) :
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https://research.vumc.nl/en/publications/904269c6-9314-4a3b-ab8f-4fa1fa7b0b76 |
