Biallelic mutations in NRROS cause an early onset lethal microgliopathy

Acta Neuropathol. 2020 May;139(5):947-951. doi: 10.1007/s00401-020-02137-7. Epub 2020 Feb 25.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Alleles
  • Animals
  • Brain / pathology*
  • Female
  • Humans
  • Latent TGF-beta Binding Proteins / genetics*
  • Male
  • Mice, Knockout
  • Mutation / genetics*
  • Pedigree

Substances

  • Latent TGF-beta Binding Proteins
  • NRROS protein, human
  • NRROS protein, mouse