Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint LaxityEric D. Boyden, Luisa Bonafé, Philippe Suarez et al.|The American Journal of Human Genetics|2011Cited by 34
The <i>Shwachman–Bodian–Diamond syndrome</i> gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian typeGen Nishimura, Shiro Ikegawa, P. Cox et al.|Journal of Medical Genetics|2007Cited by 20