Cutaneous white spots in a child with polycystic kidneys: a clue to TSC2/PKD1 gene mutation

Nephrol Dial Transplant. 2000 Jun;15(6):909-12. doi: 10.1093/ndt/15.6.909.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Child, Preschool
  • Female
  • Humans
  • Kidney / diagnostic imaging
  • Magnetic Resonance Imaging
  • Polycystic Kidney, Autosomal Dominant / complications
  • Polycystic Kidney, Autosomal Dominant / diagnosis*
  • Polycystic Kidney, Autosomal Dominant / genetics*
  • Proteins / genetics*
  • Repressor Proteins / genetics*
  • Skin / pathology
  • Skin Diseases / etiology*
  • Skin Diseases / pathology
  • TRPP Cation Channels
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins
  • Ultrasonography

Substances

  • Proteins
  • Repressor Proteins
  • TRPP Cation Channels
  • TSC2 protein, human
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins
  • polycystic kidney disease 1 protein