Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient

Ophthalmic Genet. 2016 Dec;37(4):473-474. doi: 10.3109/13816810.2015.1126615. Epub 2016 Mar 30.
No abstract available

Publication types

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

MeSH terms

  • Cornea / pathology
  • Corneal Dystrophies, Hereditary / diagnosis
  • Corneal Dystrophies, Hereditary / genetics*
  • Corneal Dystrophies, Hereditary / surgery
  • DNA Mutational Analysis
  • Exons / genetics
  • Extracellular Matrix Proteins / genetics*
  • Female
  • Humans
  • Keratoplasty, Penetrating
  • Middle Aged
  • Mutation*
  • Transforming Growth Factor beta / genetics*

Substances

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

Supplementary concepts

  • Lattice corneal dystrophy type 1