The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome

J Med Genet. 2001 Jan;38(1):52-8. doi: 10.1136/jmg.38.1.52.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Craniofacial Abnormalities*
  • Family Health
  • Female
  • Germ-Line Mutation
  • Hamartoma Syndrome, Multiple*
  • Humans
  • Male
  • Mutation
  • PTEN Phosphohydrolase
  • Pedigree
  • Phenotype
  • Phosphoric Monoester Hydrolases / genetics*
  • Syndrome
  • Tumor Suppressor Proteins*

Substances

  • Tumor Suppressor Proteins
  • Phosphoric Monoester Hydrolases
  • PTEN Phosphohydrolase
  • PTEN protein, human