Combined Cranial Intraosseous and Cerebral Cavernous Malformations With Pathogenic CCM1 Germline Sequence Variations

JAMA Neurol. 2021 Feb 1;78(2):247-248. doi: 10.1001/jamaneurol.2020.4134.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Bone Marrow / diagnostic imaging*
  • Female
  • Genetic Variation / genetics*
  • Germ Cells / pathology
  • Hemangioma, Cavernous, Central Nervous System / diagnostic imaging*
  • Hemangioma, Cavernous, Central Nervous System / genetics*
  • Hemangioma, Cavernous, Central Nervous System / surgery
  • Humans
  • KRIT1 Protein / genetics*
  • Middle Aged

Substances

  • KRIT1 Protein
  • KRIT1 protein, human