New ocular phenotype associated with a mutation in the PAX2 gene

Eye (Lond). 2010 Jul;24(7):1293-4. doi: 10.1038/eye.2009.330. Epub 2010 Jan 15.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Coloboma / genetics
  • Coloboma / physiopathology
  • Corneal Diseases / genetics*
  • Corneal Diseases / pathology*
  • Female
  • Humans
  • Lens, Crystalline / pathology*
  • Mutation*
  • Optic Nerve / abnormalities*
  • PAX2 Transcription Factor / genetics*
  • Phenotype
  • Renal Insufficiency / genetics
  • Renal Insufficiency / physiopathology
  • Vesico-Ureteral Reflux / genetics
  • Vesico-Ureteral Reflux / physiopathology

Substances

  • PAX2 Transcription Factor
  • PAX2 protein, human

Supplementary concepts

  • Papillorenal syndrome