Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3 - Budde, B S; Mizumoto, S; Kogawa, R; Becker, C; Altmuller, J; Thiele, H; Ruschendorf, F; Toliat, M R; Kaleschke, G; Hammerle, J M; Hohne, W; Sugahara, K; Nurnberg, P; Kennerknecht, I (Hum Genet, 2015)