De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy

Br J Ophthalmol. 2007 Aug;91(8):1083-4. doi: 10.1136/bjo.2006.103283.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Corneal Dystrophies, Hereditary / genetics*
  • DNA Mutational Analysis
  • Extracellular Matrix Proteins / genetics*
  • Female
  • Humans
  • Male
  • Mutation, Missense / genetics*
  • Pedigree
  • Transforming Growth Factor beta / genetics*

Substances

  • Extracellular Matrix Proteins
  • Transforming Growth Factor beta
  • betaIG-H3 protein