Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation

Am J Med Genet A. 2008 Jan 15;146A(2):257-60. doi: 10.1002/ajmg.a.32086.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Cataract / congenital*
  • Cataract / physiopathology
  • Child
  • Consensus Sequence
  • Hamartoma Syndrome, Multiple / complications
  • Hamartoma Syndrome, Multiple / genetics*
  • Humans
  • Male
  • Mutation*
  • PTEN Phosphohydrolase / genetics*
  • RNA Splicing*

Substances

  • PTEN Phosphohydrolase
  • PTEN protein, human