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

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 due to the unpredictability of the events and clea...

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Veröffentlicht in:European journal of medical genetics 2022-09, Vol.65 (9), p.104557-104557, Article 104557
Hauptverfasser: van de Laar, Ingrid M.B.H., Baas, Annette F., De Backer, Julie, Blankenstein, Jan D., Dulfer, Eelco, Helderman-van den Enden, Apollonia T.J.M., Houweling, Arjan C., Kempers, Marlies JE, Loeys, Bart, Malfait, Fransiska, Robert, Leema, Tanteles, George, Frank, Michael
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Sprache:eng
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