
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing
Keywords: Classical Ehlers-Danlos syndrome; Hypermobile Ehlers-Danlos syndrome; Differential diagnosis; COL5A1; Mast cells; cEDS; classical Ehlers-Danlos syndrome; SCTD; soft connective tissue disorder; gJHM; generalized joint hypermobility; BS; Beighton score; C