The case: hexadactyly, blindness, obesity, and end-stage renal disease

Kidney Int. 2013 Dec;84(6):1291-2. doi: 10.1038/ki.2013.180.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bardet-Biedl Syndrome / diagnosis*
  • Bardet-Biedl Syndrome / genetics
  • Bardet-Biedl Syndrome / therapy
  • Blindness / diagnosis*
  • Blindness / genetics
  • Fingers / abnormalities*
  • Genetic Predisposition to Disease
  • Humans
  • Kidney Failure, Chronic / diagnosis*
  • Kidney Failure, Chronic / genetics
  • Kidney Failure, Chronic / therapy
  • Male
  • Mutation
  • Obesity / diagnosis*
  • Obesity / genetics
  • Phenotype
  • Polydactyly / diagnosis*
  • Polydactyly / genetics
  • Proteins / genetics
  • Renal Dialysis
  • Toes / abnormalities*

Substances

  • Bbs2 protein, human
  • Proteins