Classical Ehlers‐Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant-Reference-Cited by-同舟云学术

Classical Ehlers‐Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant

Published:2019-10 Issue:2 Volume:97 Page:357-361
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Adham Salma¹²^ORCID,Dupuis‐Girod Sophie³⁴,Charpentier Etienne²⁵,Mazzella Jean‐Michaël¹,Jeunemaitre Xavier¹²⁶,Legrand Anne¹²⁶

Affiliation:

1. Assistance‐Publique Hôpitaux de Paris, Hôpital européen Georges Pompidou, Centre de référence des maladies vasculaires raresService de génétique Paris France

2. Faculté de SantéUniversité de Paris Paris France

3. Hospices Civils de Lyon, Hôpital Femme Mère EnfantService de Génétique, Centre de compétence des maladies vasculaires rares Bron France

4. Inserm, CEA, BIG‐Biologie du Cancer et de l'InfectionUniversité de Grenoble Alpes Grenoble France

5. Assistance‐Publique Hôpitaux de Paris, Hôpital européen Georges PompidouService de radiologie Paris France

6. INSERM, UMRS 970, Paris – Centre de recherche cardiovasculaire PARCC Paris France

Funder

Fondation pour la Recherche Médicale

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13643

Reference22 articles.

1. The 2017 international classification of the Ehlers-Danlos syndromes

2. Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

3. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

4. Cross-Sectional and Longitudinal Assessment of Aortic Root Dilation and Valvular Anomalies in Hypermobile and Classic Ehlers-Danlos Syndrome

5. Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation

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