Publication
Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity
Eric D. Boyden, A. Belinda Campos-Xavier, Sebastian Kalamajski, Trevor L. Cameron, Philippe Suarez, Goranka Tanackovic, Generoso Andria, Diana Ballhausen, Michael D. Briggs, Claire Hartley, Daniel H. Cohn, H. Rosemarie Davidson, Christine Hall, Shiro Ikegawa, Pierre-Simon Jouk, Rainer König, André Megarbané, Gen Nishimura, Ralph S. Lachman, Geert Mortier, David L. Rimoin, R. Curtis Rogers, Massimiliano Rossi, Hirotake Sawada, Richard Scott, Sheila Unger, Eugenia Ribeiro Valadares, John F. Bateman, Matthew L. Warman, Andrea Superti-Furga, Luisa Bonafé
The American Journal of Human Genetics, January 2012, Elsevier
DOI: 10.1016/j.ajhg.2011.12.012