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Toro C, Hori RT, Malicdan MCV, et al. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. Hum Mol Genet. 2018;27(7):1310doi: 10.1093/hmg/ddy049.
Toro, C., Hori, R. T., Malicdan, M. C. V., Tifft, C. J., Goldstein, A., Gahl, W. A., Adams, D. R., Fauni, H. B., Wolfe, L. A., Xiao, J., Khan, M. M., Tian, J., Hope, K. A., Reiter, L. T., Tremblay, M. G., Moss, T., Franks, A. L., Balak, C., & LeDoux, M. S. (2018). A recurrent de novo missense mutation in UBTF causes developmental neuroregression. Human molecular genetics, 27(7), 1310. https://doi.org/10.1093/hmg/ddy049
Toro, Camilo, et al. "A recurrent de novo missense mutation in UBTF causes developmental neuroregression." Human molecular genetics vol. 27,7 (2018): 1310. doi: https://doi.org/10.1093/hmg/ddy049
Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C, LeDoux MS. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. Hum Mol Genet. 2018 Apr 01;27(7):1310. doi: 10.1093/hmg/ddy049. PMID: 29447355; PMCID: PMC6093340.
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Hum Mol Genet. 2018 Apr 01;27(7):1310. doi: 10.1093/hmg/ddy049.

A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

Human molecular genetics

Camilo Toro, Roderick T Hori, May Christine V Malicdan, Cynthia J Tifft, Amy Goldstein, William A Gahl, David R Adams, Harper B Fauni, Lynne A Wolfe, Jianfeng Xiao, Mohammad M Khan, Jun Tian, Kevin A Hope, Lawrence T Reiter, Michel G Tremblay, Tom Moss, Alexis L Franks, Chris Balak, Mark S LeDoux

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.

PMID: 29447355 PMCID: PMC6093340 DOI: 10.1093/hmg/ddy049

[No abstract available.]

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