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. Among authors: tischfield ma.
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.