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, G F; Cavalcanti, D; Tsurusaki, Y; Saitsu, H; Watanabe, S; Lausch, E; Unger, S; Bonafe, L; Ohashi, H; Superti-Furga, A; Matsumoto, N; Sugahara, K; Nishimura, G; Ikegawa, S (Am J Hum Genet, 2013)