The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy

Kidney Int. 2011 Mar;79(6):691-692. doi: 10.1038/ki.2010.514.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alstrom Syndrome / genetics*
  • Alstrom Syndrome / pathology
  • Biopsy
  • Cell Cycle Proteins
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease
  • Haplotypes
  • Heredity
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Nephritis, Interstitial / genetics*
  • Nephritis, Interstitial / pathology
  • Pedigree
  • Phenotype
  • Proteins / genetics*

Substances

  • ALMS1 protein, human
  • Cell Cycle Proteins
  • Proteins