A novel mutation in colony-stimulating factor 1 receptor (CSF1R) causing CSF1R-related disorder (CSF1R-RD). uri icon

authors

  • Sonti, Anup N
  • Blurton-Jones, Matthew
  • Head, Elizabeth
  • Ringman, John M
  • Elizabeth Joe, MD
  • Berry, Jillian V
  • McDonnell, Michelle
  • Sajjadi, Seyed Ahmad
  • Sheik-Bahaei, Nasim
  • Amezcua, Lilyana
  • Feigenbaum, Danielle
  • Lew, Mark F

publication date

  • February 4, 2026