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Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
Whitman MC, Andrews C, Chan WM, Tischfield MA, Stasheff SF, Brancati F, Ortiz-Gonzalez X, Nuovo S, Garaci F, MacKinnon SE, Hunter DG, Grant PE, Engle EC. Whitman MC, et al. Am J Med Genet A. 2016 Feb;170A(2):297-305. doi: 10.1002/ajmg.a.37362. Epub 2015 Dec 6. Am J Med Genet A. 2016. PMID: 26639658 Free PMC article.
Human disorders of axon guidance.
Nugent AA, Kolpak AL, Engle EC. Nugent AA, et al. Curr Opin Neurobiol. 2012 Oct;22(5):837-43. doi: 10.1016/j.conb.2012.02.006. Epub 2012 Mar 5. Curr Opin Neurobiol. 2012. PMID: 22398400 Free PMC article. Review.