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

Date publication

mars 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/30919682

Résumé

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

Mots clés

Ehlers-Danlos syndrome, diagnosis, genetic testing, patient selection, vascular disease

Référence

Circ Genom Precis Med. 2019 03;12(3):e001996