A novel mutation of RASA1 in capillary malformation-arteriovenous malformation syndrome in a case with spinal cord involvement

Clin Neurol Neurosurg. 2020 Aug:195:105965. doi: 10.1016/j.clineuro.2020.105965. Epub 2020 May 26.
No abstract available

Keywords: Capillary malformation-arteriovenous malformation syndrome; RASA1 mutation.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Arteriovenous Malformations / diagnostic imaging
  • Arteriovenous Malformations / genetics*
  • Capillaries / abnormalities*
  • Capillaries / diagnostic imaging
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation*
  • Port-Wine Stain / diagnostic imaging
  • Port-Wine Stain / genetics*
  • Spinal Cord / diagnostic imaging*
  • p120 GTPase Activating Protein / genetics*

Substances

  • RASA1 protein, human
  • p120 GTPase Activating Protein

Supplementary concepts

  • Capillary Malformation-Arteriovenous Malformation