Ontology highlight
ABSTRACT:
SUBMITTER: Bowen JM
PROVIDER: S-EPMC10326011 | biostudies-literature | 2023 Jul
REPOSITORIES: biostudies-literature
Bowen Jessica M JM Hernandez Monica M Johnson Diana S DS Green Claire C Kammin Tammy T Baker Duncan D Keigwin Sylvia S Makino Seiko S Taylor Naomi N Watson Oliver O Wheeldon Nigel M NM Sobey Glenda J GJ
European journal of human genetics : EJHG 20230329 7
The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. Vascular EDS (vEDS) is an inherited connective tissue disorder caused by pathogenic variants in the COL3A1 gene. Associated tissue fragility affects multiple organ systems, increasing the risk of blood vessel dissection and rupture, with potentially fatal consequences. The diagnosis of vEDS has improved with advances in genetic testing, however this is most often suspected foll ...[more]