VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype

Br J Ophthalmol. 2010 Mar;94(3):386-8. doi: 10.1136/bjo.2009.159996.
No abstract available

Publication types

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

MeSH terms

  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Homeodomain Proteins / genetics*
  • Humans
  • Microphthalmos / genetics*
  • Mutation*
  • Phenotype
  • RNA Splice Sites / genetics*
  • Transcription Factors / genetics*

Substances

  • Homeodomain Proteins
  • RNA Splice Sites
  • Transcription Factors
  • VSX2 protein, human