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

  title={Genetic testing for vascular Ehlers-Danlos syndrome and other variants with fragility of the middle arteries},
  author={Yeltay Rakhmanov and Paolo Enrico Maltese and Alice Bruson and Marco Castori and Tommaso Beccari and Munis Dundar and Matteo Bertelli},
  journal={The EuroBiotech Journal},
  pages={42 - 44}
Abstract 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 mutations in 19 distinct genes. The present module focuses on forms with major vascular involvement: vascular EDS (vEDS) caused by heterozygous mutations in COL3A1, “vascular-like” EDS… 



Familial Ehlers‐Danlos syndrome with lethal arterial events caused by a mutation in COL5A1

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