Homozygous truncation of SIX6 causes complex microphthalmia in humans

Clin Genet. 2013 Aug;84(2):198-9. doi: 10.1111/cge.12046. Epub 2012 Nov 20.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child, Preschool
  • DNA Mutational Analysis
  • Homeodomain Proteins / genetics*
  • Homozygote*
  • Humans
  • Infant
  • Male
  • Microphthalmos / diagnosis
  • Microphthalmos / genetics*
  • Mutation*
  • Pedigree
  • Trans-Activators / genetics*

Substances

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