A novel frameshift COL3A1 variant in vascular Ehlers-Danlos syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "Annals of vascular surgery"
DOI: 10.1016/j.avsg.2019.05.057
Abstract: Ehlers-Danlos Syndromes (EDS) are a group of heritable connective tissue disorders with distinct genetic etiologies. Of the 13 currently recognized types of EDS, the vascular type (vEDS), is generally considered the most severe and is… read more here.
Keywords: novel frameshift; col3a1 variant; ehlers danlos; frameshift col3a1 ... See more keywords