Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.

@article{Lechner2013MutationalSO,
  title={Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.},
  author={Judith Lechner and Durga Prasad Dash and Dorota Muszynska and Mohsen Hosseini and Fani Segev and Sonia George and David G. Frazer and Jonathan E Moore and Stephen Bruce Kaye and Terri L Young and David A Simpson and Amanda Jane Churchill and Elise Heon and Colin Eric Willoughby},
  journal={Investigative ophthalmology & visual science},
  year={2013},
  volume={54 5},
  pages={3215-23}
}
PURPOSE Mutations in ZEB1 have been reported in posterior polymorphous corneal dystrophy (PPCD3; MIM #609141) and Fuchs' endothelial corneal dystrophy (FECD6; MIM #613270). Although PPCD and keratoconus are clinically and pathologically distinct, PPCD has been associated with keratoconus, suggesting a common genetic basis. The purpose of our study was to… CONTINUE READING