Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding

Clin Dysmorphol. 2012 Apr;21(2):91-92. doi: 10.1097/MCD.0b013e328351639d.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Substitution
  • Brain / pathology
  • Exons
  • Hamartoma Syndrome, Multiple / complications*
  • Hamartoma Syndrome, Multiple / diagnosis
  • Hamartoma Syndrome, Multiple / genetics*
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Malformations of Cortical Development / complications*
  • Malformations of Cortical Development / genetics*
  • Mutation*
  • PTEN Phosphohydrolase / genetics*

Substances

  • PTEN Phosphohydrolase
  • PTEN protein, human