Cerebral cavernomas in a family with multiple cutaneous and uterine leiomyomas associated with a new mutation in the fumarate hydratase gene

J Invest Dermatol. 2007 Sep;127(9):2271-3. doi: 10.1038/sj.jid.5700851. Epub 2007 May 3.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Family Health
  • Female
  • Fumarate Hydratase / genetics*
  • Hemangioma, Cavernous / genetics*
  • Humans
  • Leiomyoma / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation*
  • Pedigree
  • Phenotype
  • Skin Neoplasms / genetics*
  • Uterine Neoplasms / genetics*

Substances

  • Fumarate Hydratase