Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)

Autor: Ingrid M.B.H. van de Laar, Annette F. Baas, Julie De Backer, Jan D. Blankenstein, Eelco Dulfer, Apollonia T.J.M. Helderman-van den Enden, Arjan C. Houweling, Marlies JE. Kempers, Bart Loeys, Fransiska Malfait, Leema Robert, George Tanteles, Michael Frank

Publikováno v: van de Laar, I M B H, Baas, A F, de Backer, J, Blankenstein, J D, Dulfer, E, Helderman-van den Enden, A T J M, Houweling, A C, Kempers, M J E, Loeys, B, Malfait, F, Robert, L, Tanteles, G & Frank, M 2022, ' Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN) ', European Journal of Medical Genetics, vol. 65, no. 9, 104557 . https://doi.org/10.1016/j.ejmg.2022.104557
European Journal of Medical Genetics, 65(9):104557. Elsevier Masson
European journal of medical genetics, 65(9):104557. ELSEVIER SCIENCE BV
EUROPEAN JOURNAL OF MEDICAL GENETICS
European Journal of Medical Genetics, 65(9):104557. Elsevier Masson SAS
European Journal of Medical Genetics, 65, 9
European Journal of Medical Genetics, 65(9):104557. Elsevier
European Journal of Medical Genetics, 65

Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic disorder clinically characterized by vascular, intestinal and uterine fragility and caused by heterozygous pathogenic variants in the COL3A1 gene. Management of patients with vEDS is difficult

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https://research.vumc.nl/en/publications/f4834327-875e-4f65-8b6f-849b00433669