Genetic testing for vascular Ehlers-Danlos syndrome and other variants with fragility of the middle arteries

Genetic testing for vascular Ehlers-Danlos syndrome and other variants with fragility of the middle arteries

Ehlers-Danlos syndrome (EDS) is an umbrella term for various inherited connective tissue disorders associated with mutations in genes involved in extracellular matrix formation. “The 2017 International Classification of Ehlers-Danlos Syndromes and related disorders” identifies 13 clinical types with...

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Bibliographic Details
Main Authors: Rakhmanov Yeltay, Maltese Paolo Enrico, Bruson Alice, Castori Marco, Beccari Tommaso, Dundar Munis, Bertelli Matteo
Format: Article
Language:English
Published: Sciendo 2018-09-01
Series:The EuroBiotech Journal
Subjects:
kyphoscoliotic ehlers-danlos syndrome
vascular ehlers-danlos syndrome
col1a1
col3a1
col5a1
fkbp14
plod1
ebtna utility gene test
Online Access:https://doi.org/10.2478/ebtj-2018-0034

Internet

https://doi.org/10.2478/ebtj-2018-0034

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