A recurrent de novo missense mutation in UBTF causes developmental neuroregression

Document Details

Document Type
Pub Defense Publication
Publication Date
Jan 02, 2018
Source ID
10.1093/hmg/ddx435

Entities

People

  • Alexis L Franks
  • Amy Goldstein
  • C4rcd Research Group
  • Camilo Toro
  • Chris Balak
  • Cynthia J Tifft
  • David R Adams
  • Harper B Fauni
  • Jianfeng Xiao
  • Jun Tian
  • Kevin A. Hope
  • Lawrence T. Reiter
  • Lynne A Wolfe
  • Mark S LeDoux
  • May Christine V Malicdan
  • Michel G Tremblay
  • Mohammad M. Khan
  • Roderick T. Hori
  • Tom Moss
  • William A. Gahl

Organizations

  • Laval University
  • National Human Genome Research Institute
  • National Institutes of Health
  • Office of the Director
  • Translational Genomics Research Institute
  • UPMC Children's Hospital of Pittsburgh
  • United States Department of Defense
  • University of Tennessee Health Science Center