Title: Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
Authors: Marom R, Zhang B, Washington ME, Song IW, Burrage LC, Rossi VC, Berrier AS, Lindsey A, Lesinski J, Nonet ML, Chen J, Baldridge D, Silverman GA, Sutton VR, Rosenfeld JA, Tran AA, Hicks MJ, Murdock DR, Dai H, Weis M, Jhangiani SN, Muzny DM, Gibbs RA, Caswell R, Pottinger C, Cilliers D, Stals K, Eyre D, Krakow D, Schedl T, Pak SC, Lee BH
Journal: PLoS Genet
Published: 2023-11-07
Volume: 19
Pages: e1011005