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
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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