A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1-Reference-Cited by-同舟云学术

A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1

Published:2020-02 Issue:2 Volume:63 Page:103730
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Duong June^ORCID,Rideout Andrea,MacKay Sara^ORCID,Beis Jill,Parkash Sandhya,Schwarze Ulrike,Horne S. Gabrielle,Vandersteen Anthony

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference22 articles.

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3. Arterial rupture in classic ehlers-danlos syndrome with COL5A1 mutation;Borck;Am. J. Med. Genet.,2010

4. Ehlers-Danlos Syndrome, classical type;Bowen;Am. J. Med. Genet. C,2017

5. The Ehlers-Danlos syndromes, rare types;Brady;Am. J. Med. Genet. C,2017

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2. Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen;Genetics in Medicine;2021-12

3. Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome;Human Mutation;2021-07-26

4. COL1-Related Disorders: Case Report and Review of Overlapping Syndromes;Frontiers in Genetics;2021-05-07

5. Collagens in the Physiopathology of the Ehlers–Danlos Syndromes;The Collagen Superfamily and Collagenopathies;2021