Associated Papers
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.
Demirdas S et al.
Circulation. Genomic and Precision Medicine, 2024
38623759 (PubMed )
Supplement: hcg-17-e003978-s001.pdf
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater E et al.
Human Mutation, 2018
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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