Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy.

McFadden, Jason R; Tolete, Christina Deanne P; Huang, Yan; Macnamara, Ellen; Sept, David; Nesterova, Galina; Gahl, William A; Sackett, Dan L; Malicdan, May Christine V.

Afiliação

McFadden JR; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Tolete CDP; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Huang Y; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Macnamara E; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Sept D; Departments of Biomedical Engineering and Biophysics, University of Michigan, Ann Arbor, MI 48109, USA.
Nesterova G; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Gahl WA; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Sackett DL; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892-1851, USA.
Malicdan MCV; Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892, USA.