A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation

Clin Genet. 2015 Feb;87(2):192-5. doi: 10.1111/cge.12374. Epub 2014 Apr 7.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Atrophy / genetics*
  • Atrophy / pathology
  • Cell Differentiation / genetics
  • Child
  • Child, Preschool
  • Female
  • Homeodomain Proteins / genetics*
  • Homozygote
  • Humans
  • Macular Degeneration / genetics*
  • Macular Degeneration / pathology
  • Male
  • Mutation
  • Optic Nerve Diseases / genetics*
  • Optic Nerve Diseases / pathology
  • Retinal Ganglion Cells / pathology
  • Trans-Activators / genetics*

Substances

  • Homeodomain Proteins
  • SIX6 protein, human
  • Trans-Activators