Two Unique TUBB3 Mutations Cause Both CFEOM3 and Malformations of Cortical Development

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 TUBB...

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Veröffentlicht in:Am J Med Genet A
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2015
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4770801/
https://ncbi.nlm.nih.gov/pubmed/26639658
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37362
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