Cheng L, Desai J, Miranda CJ, et al. Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling. Neuron. 2014;82(2):334-49. doi:10.1016/j.neuron.2014.02.038
Whitman MC, Andrews C, Chan WM, et al. Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. Am J Med Genet A. 2016;170A(2):297-305. doi:10.1002/ajmg.a.37362