Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development
Julie A. Jurgens, Brenda J. Barry, Gabrielle Lemire, Wai‐Man Chan, Mary C. Whitman, Sherin Shaaban, Caroline D. Robson, Sarah MacKinnon, Eleina England, Hugh J. McMillan, Christopher E. Kelly, Brandon M. Pratt, Anne O’Donnell‐Luria, Daniel G. MacArthur, Kym M. Boycott, David G. Hunter, Elizabeth C. Engle
Topics & Concepts
ProbandMissense mutationBiologyExome sequencingGeneticsMutationGeneMicrotubule and mitosis dynamicsCellular transport and secretionGenetics and Neurodevelopmental Disorders