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Autor:
Jessica M. Bowen, Monica Hernandez, Diana S. Johnson, Claire Green, Tammy Kammin, Duncan Baker, Sylvia Keigwin, Seiko Makino, Naomi Taylor, Oliver Watson, Nigel M. Wheeldon, Glenda J. Sobey
Publikováno v:
European Journal of Human Genetics.
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