| 1 | COL1A2, EDS11 |
| Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. | |
| Malfait F, Symoens S, Coucke P, Nunes L, De Almeida S, De Paepe A. | |
| J Med Genet 43(7):e36. 2006 | |
| 2 | EDS11, COL1A2 |
| Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 Gene That Activate the Nonsense-Mediated RNA Decay Pathway. | |
| Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH. | |
| Am J Hum Genet 74(5):917-30. Epub 2004 Apr 09. 2004 | |