Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome
Author:
Affiliation:
1. Center for Medical Genetics Ghent University Hospital Ghent Belgium
2. Department of Biomolecular Medicine Ghent University Ghent Belgium
Funder
Fonds Wetenschappelijk Onderzoek
Universiteit Gent
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24258
Reference42 articles.
1. Classical Ehlers‐Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant
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4. Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997
5. Type V collagen: heterotypic type I/V collagen interactions in the regulation of fibril assembly
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