Novel mutation in PANK2 associated with retinal telangiectasis

Br J Ophthalmol. 2011 Jan;95(1):149-50. doi: 10.1136/bjo.2010.183616. Epub 2010 Oct 24.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Child
  • Female
  • Frameshift Mutation / genetics*
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Homozygote
  • Humans
  • Male
  • Pantothenate Kinase-Associated Neurodegeneration / genetics*
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*
  • Retinal Telangiectasis / genetics*

Substances

  • Phosphotransferases (Alcohol Group Acceptor)
  • pantothenate kinase