Associated Papers
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield.
Bowen JM et al.
European Journal of Human Genetics : Ejhg, 2023
36977837 (PubMed )
Supplement: 41431_2023_1343_MOESM1_ESM.pdf
Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.
Legrand A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
Frank M et al.
European Journal of Human Genetics : Ejhg, 2015
A novel mutation screening system for Ehlers-Danlos Syndrome, vascular type by high-resolution melting curve analysis in combination with small amplicon genotyping using genomic DNA.
Naing BT et al.
Biochemical and Biophysical Research Communications, 2011
Vascular Ehlers-Danlos Syndrome: Pathological Variants, Recent Discoveries, and Theoretical Approaches.
Assavarittirong C et al.
Cardiology in Review, 0
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