Unusual phenotype of an individual with the R124C mutation in the TGFBI gene

Arch Ophthalmol. 2004 Aug;122(8):1224-7. doi: 10.1001/archopht.122.8.1224.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cornea / ultrastructure
  • Corneal Dystrophies, Hereditary / genetics*
  • Corneal Dystrophies, Hereditary / pathology
  • Corneal Dystrophies, Hereditary / surgery
  • Extracellular Matrix Proteins / genetics*
  • Female
  • Humans
  • Keratoplasty, Penetrating
  • Pedigree
  • Phenotype
  • Point Mutation*
  • Polymerase Chain Reaction
  • Transforming Growth Factor beta / genetics*
  • Visual Acuity

Substances

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