De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy. uri icon

authors

  • Hadjinicolaou, Aristides
  • Yoon, Grace
  • Ngo, Kathie J
  • Conway, Daniel Y
  • Provias, John P
  • Baker, Steven K
  • Brady, Lauren I
  • Bennett, Craig L
  • Al La Spada, MD, PhD
  • Fogel, Brent L

publication date

  • January 1, 2021