| 1 | B3GALT6, B4GALT7, SEMDJL1 |
| Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders. | |
| Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafé L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S. | |
| Am J Hum Genet m J Hum Genet. 2013 May 7. doi:pii: S0002-9297(13)00164-X. 10.1016/j.ajhg.2013.04.003. [Epub ahead of print] 2013 | |
| 2 | SEMDJL1, SEMDJL2 |
| Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). | |
| Tsirikos AI, Mason DE, Scott CI Jr, Chang WN. | |
| Am J Med Genet A 119A(3):386-90. 2003 | |