| 1 | COL5A2, EDS1B |
| Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I. | |
| Michalickova K, Susic M, Willing MC, Wenstrup RJ, Cole WG. | |
| Hum Mol Genet 7(2):249-55. 1998 | |
| 2 | EDS1A, EDS1B, EDS2, EDS3, EDS4A, EDS6, EDS7A1, EDS7A2, EDS10, OHS |
| Ehlers-Danlos syndromes : revised nosology, Villefranche, 1997. | |
| Beighton P, et al. | |
| Am J Med Genet 77 : 31-37. 1998 | |