Vascular Ehlers-Danlos Syndrome-Reference-Cited by-同舟云学术

Vascular Ehlers-Danlos Syndrome

Published:2019-04 Issue:15 Volume:73 Page:1948-1957
ISSN:0735-1097
Container-title:Journal of the American College of Cardiology
language:en
Short-container-title:Journal of the American College of Cardiology

Author:

Frank Michael,Adham Salma,Seigle Stéphanie,Legrand Anne,Mirault Tristan,Henneton Pierrick,Albuisson Juliette,Denarié Nicolas,Mazzella Jean-Michaël,Mousseaux Elie,Messas Emmanuel,Boutouyrie Pierre,Jeunemaitre Xavier

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine

Reference15 articles.

1. The 2017 international classification of the Ehlers-Danlos syndromes;Malfait;Am J Med Genet C Semin Med Genet,2017

2. Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen;Superti-Furga;J Biol Chem,1988

3. The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome;Frank;Eur J Hum Genet,2015

4. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type;Pepin;N Engl J Med,2000

5. Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV;Schwarze;Am J Hum Genet,2001

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