A recurrent de novo missense mutation in UBTF causes developmental neuroregression

Author:

Toro Camilo1,Hori Roderick T2,Malicdan May Christine V1,Tifft Cynthia J1,Goldstein Amy3,Gahl William A1,Adams David R1,Fauni Harper B1,Wolfe Lynne A1,Xiao Jianfeng4,Khan Mohammad M4,Tian Jun4,Hope Kevin A5,Reiter Lawrence T46,Tremblay Michel G78,Moss Tom78,Franks Alexis L3,Balak Chris9,LeDoux Mark S4,

Affiliation:

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

Funder

National Institutes of Health

Department of Defense

NIH Office of the Director

National Human Genome Research Institute

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

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