Associated Papers
Vascular findings in five unrelated children with vascular Ehlers-Danlos syndrome: A multi-case report.
Skei Sekkelsten AI et al.
European Journal of Medical Genetics, 2025
Is Exon Skipping a Viable Therapeutic Approach for Vascular Ehlers-Danlos Syndrome with Mutations in COL3A1 Exon 10 or 15?
Utama S et al.
International Journal of Molecular Sciences, 2024
Patient-derived extracellular matrix demonstrates role of COL3A1 in blood vessel mechanics.
Doherty EL et al.
Acta Biomaterialia, 2023
Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes.
Shalhub S et al.
Journal of Vascular Surgery, 2014
Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome.
Morissette R et al.
Circulation. Cardiovascular Genetics, 2014
COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy.
Leistritz DF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
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