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Features of Vascular Ehlers-Danlos Syndrome Among Biobank Participants Harboring Predicted High-Risk Genotypes.

作者信息

Lui Madeline M, Shadrina Mariya, Gelb Bruce D, Kontorovich Amy R

机构信息

Icahn School of Medicine at Mount Sinai (M.M.L.), Icahn School of Medicine at Mount Sinai, New York.

The Mindich Child Health and Development Institute (M.S., B.D.G., A.R.K.), Icahn School of Medicine at Mount Sinai, New York.

出版信息

Circ Genom Precis Med. 2023 Apr;16(2):e003864. doi: 10.1161/CIRCGEN.122.003864. Epub 2023 Mar 3.

Abstract
摘要

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引用本文的文献

本文引用的文献

1
Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study.
J Am Coll Cardiol. 2019 Apr 23;73(15):1948-1957. doi: 10.1016/j.jacc.2019.01.058.
2
The 2017 international classification of the Ehlers-Danlos syndromes.
Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552.
3
Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.
Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):40-47. doi: 10.1002/ajmg.c.31553.
4
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
Eur J Hum Genet. 2015 Dec;23(12):1657-64. doi: 10.1038/ejhg.2015.32. Epub 2015 Mar 11.
5
Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).
Genet Med. 2014 Dec;16(12):881-8. doi: 10.1038/gim.2014.72. Epub 2014 Jun 12.

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