Article
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
American journal of medical genetics. Part A - 1 Feb 2016
Whitman Mary C, Andrews Caroline, Chan Wai-Man, Tischfield Max A, Stasheff Steven F, Brancati Francesco, Ortiz-Gonzalez Xilma, Nuovo Sara, Garaci Francesco, MacKinnon Sarah E, Hunter David G, Grant P Ellen, Engle Elizabeth C
Abstract excerpt
One set of missense mutations in the neuron specific beta tubulin isotype 3 (TUBB3) has been reported to cause malformations of cortical development (MCD), while a second set has been reported to cause isolated or syndromic Congenital Fibrosis of the Extraocular Muscles type 3 (CFEOM3). Because TUBB3 mutations reported to cause CFEOM had not been associated with cortical malformations, while mutations reported to...
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