Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33541/fullpdf
Reference19 articles.
1. Articular mobility in an African population;Beighton;Ann Rheum Dis,1973
2. Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997;Beighton;Am J Med Genet,1998
3. Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome;Borozdin;Hum Mutat,2006
4. Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders;De Paepe;Br J Haematol,2004
5. Ehlers-Danlos syndrome type IV;Germain;Orphanet J Rare Dis,2007
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1. Iliac artery dissection and rupture in a patient with classic Ehlers-Danlos syndrome due to COL5A1 null variant;Journal of Vascular Surgery Cases, Innovations and Techniques;2024-06
2. Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system;American Journal of Medical Genetics Part A;2022-10-03
3. A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features;American Journal of Medical Genetics Part A;2022-04-09
4. Fibrillar Collagen Variants in Spontaneous Coronary Artery Dissection;JAMA Cardiology;2022-04-01
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