Interestingly, in a cohort of 40 patients displaying a vascular EDS-like phenotype but normal collagen III biochemistry, 30 % carried TGFBR1/2 mutations [32], suggesting on the one hand that vascular EDS closely resembles LDS but on the other hand that TGFBR mutations may cause a broad spectrum of diseases associated with aortic aneurysms. This evidence concerns the gene TGFBR1 and Ehlers-Danlos syndrome, vascular type.