A novel, pathogenic COL4A1 missense variant involving thrombotic microangiopathic leukoencephalopathy in a neonate

J Neuropathol Exp Neurol. 2023 Sep 20;82(10):880-883. doi: 10.1093/jnen/nlad057.
No abstract available

Publication types

  • Letter

MeSH terms

  • Collagen Type IV / genetics
  • Humans
  • Infant, Newborn
  • Leukoencephalopathies* / diagnostic imaging
  • Leukoencephalopathies* / genetics
  • Mutation
  • Mutation, Missense* / genetics

Substances

  • Collagen Type IV
  • COL4A1 protein, human