The case: familial renal failure with ocular abnormality

Kidney Int. 2008 Apr;73(8):977-8. doi: 10.1038/ki.2008.12.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acute Kidney Injury / complications
  • Acute Kidney Injury / genetics*
  • Child, Preschool
  • Coloboma / complications
  • Coloboma / genetics*
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Mutation
  • Optic Disk / abnormalities*
  • PAX2 Transcription Factor / genetics*
  • Syndrome

Substances

  • PAX2 Transcription Factor
  • PAX2 protein, human