Juvenile nephronophtisis, short stature, partial adontia and skeletal abnormalities--a new syndromic association

Nephrol Dial Transplant. 2006 Aug;21(8):2335-6. doi: 10.1093/ndt/gfl047. Epub 2006 Feb 20.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Anodontia / genetics*
  • Bone and Bones / abnormalities
  • Child
  • Dwarfism / genetics*
  • Ear, External / abnormalities
  • Face / abnormalities
  • Female
  • Fibrosis
  • Humans
  • Kidney Failure, Chronic / etiology
  • Kidney Failure, Chronic / surgery
  • Kidney Failure, Chronic / therapy
  • Kidney Transplantation
  • Kidney Tubules, Proximal / pathology
  • Peritoneal Dialysis
  • Polycystic Kidney Diseases / genetics*
  • Syndrome