Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility Genetics in Medicine Ehlers Danlos Syndrome UF Health Hypermobile EhlersDanlos syndrome: A review and a critical appraisal of published genetic research to date Scicluna 2022 Clinical Genetics Wiley Online Library EhlersDanlos Syndrome Associated with Glycosaminoglycan Abnormalities Springer Nature Link
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