An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome

Br J Ophthalmol. 2005 Aug;89(8):1065-6. doi: 10.1136/bjo.2005.068130.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Eye Diseases, Hereditary / genetics*
  • Humans
  • Orphan Nuclear Receptors
  • Point Mutation*
  • Receptors, Cytoplasmic and Nuclear / genetics*
  • Retinal Degeneration / genetics*
  • Syndrome
  • Transcription Factors / genetics*

Substances

  • NR2E3 protein, human
  • Orphan Nuclear Receptors
  • Receptors, Cytoplasmic and Nuclear
  • Transcription Factors