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 . 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 with a... 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 . https://doi.org/10.1161/CIRCGEN.122.003978 |
| Schlagwörter: |
Ehlers-Danlos syndrome
/ type IV
/ aortic aneurysm
/ collagen
/ connective tissue
/ uterine rupture |
| Sprache: |
Englisch |
| Permalink: |
https://search.fid-benelux.de/Record/base-29021576 |
| Datenquelle: |
BASE;
Originalkatalog |
| Powered By: |
BASE |
| Link(s) :
|
https://cris.maastrichtuniversity.nl/en/publications/e42d4432-3a29-4c7e-81b4-1956e3dc50fe |
