Accuracy of Clinical Diagnostic Criteria for Patients with Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre.

Date publication

février 2019

Journal

Circulation. Genomic and precision medicine

Auteurs

Membres identifiés du Cancéropôle Est :
Dr ALBUISSON Juliette

Tous les auteurs :
Henneton P, Albuisson J, Adham S, Legrand A, Mazzella JM, Jeunemaitre X, Frank M

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/30786240

Résumé

Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disease secondary to mutations within the COL3A1 gene. The diagnosis of vEDS is challenging and patient selection for genetic testing relies on diagnostic criteria, which have never been evaluated.

Mots clés

Vascular Ehlers-Danlos syndrome, Villefranche classification

Référence

Circ Genom Precis Med. 2019 02 20;: