PAX6 Mutational Status Determines Aniridia-Associated Keratopathy Phenotype

Ophthalmology. 2020 Feb;127(2):273-275. doi: 10.1016/j.ophtha.2019.09.034. Epub 2019 Sep 28.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aniridia / diagnosis
  • Aniridia / genetics*
  • Child
  • Child, Preschool
  • Corneal Diseases / diagnosis
  • Corneal Diseases / genetics*
  • DNA Mutational Analysis
  • Female
  • Humans
  • Infant
  • Male
  • Microscopy, Confocal
  • Middle Aged
  • PAX6 Transcription Factor / genetics*
  • Phenotype
  • Tomography, Optical Coherence
  • Young Adult

Substances

  • PAX6 Transcription Factor
  • PAX6 protein, human