Novel Variant in COL4A1 Causes Extensive Prenatal Intracranial Hemorrhage and Porencephaly

J Neuropathol Exp Neurol. 2021 Sep 10;80(8):807-810. doi: 10.1093/jnen/nlab026.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Collagen Type IV / genetics*
  • Female
  • Humans
  • Intracranial Hemorrhages / diagnostic imaging
  • Intracranial Hemorrhages / etiology*
  • Mutation
  • Porencephaly / complications
  • Porencephaly / diagnostic imaging
  • Porencephaly / genetics*
  • Porencephaly / pathology
  • Pregnancy
  • Ultrasonography, Prenatal

Substances

  • COL4A1 protein, human
  • Collagen Type IV