A recurrent de novo missense mutation in UBTF causes developmental neuroregression

Affiliations

• ¹ Undiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
• ² Department of Microbiology, Immunology and Biochemistry, University of Tennessee Health Science Center, Memphis, TN, USA.
• ³ Division of Child Neurology, Department of Pediatrics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
• ⁴ Departments of Neurology and Anatomy & Neurobiology, University of Tennessee Health Science Center, Memphis, TN, USA.
• ⁵ Integrated Program in Biological Sciences, University of Tennessee Health Science Center, Memphis, TN, USA.
• ⁶ Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN, USA.
• ⁷ Laboratory of Growth and Development, St-Patrick Research Group in Basic Oncology, Cancer Division of the Quebec University Hospital Research Centre, Canada.
• ⁸ Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Laval University, QC, Canada.
• ⁹ Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute (TGen), Phoenix, AZ, USA.