Papillorenal syndrome in a family with unusual complications

Br J Ophthalmol. 2013 Jul;97(7):945-6. doi: 10.1136/bjophthalmol-2013-303122. Epub 2013 May 18.
No abstract available

Keywords: Embryology and development; Genetics; Optic Nerve.

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Coloboma / genetics*
  • Cryptorchidism / genetics
  • Diabetes Mellitus / genetics
  • Exons / genetics
  • Gout / genetics
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • PAX2 Transcription Factor / genetics*
  • Pedigree
  • Renal Insufficiency / genetics*
  • Sequence Analysis, DNA
  • Vesico-Ureteral Reflux / genetics*
  • Young Adult

Substances

  • PAX2 Transcription Factor
  • PAX2 protein, human

Supplementary concepts

  • Papillorenal syndrome