Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations

Pediatr Nephrol. 2010 Nov;25(11):2375-6. doi: 10.1007/s00467-010-1591-1. Epub 2010 Jul 6.
No abstract available

Publication types

  • Comment
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Child, Preschool
  • Diseases in Twins / genetics
  • Diseases in Twins / physiopathology
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Intellectual Disability / physiopathology*
  • Liver Diseases / genetics
  • Liver Diseases / physiopathology*
  • Male
  • Membrane Proteins / genetics*
  • Mutation, Missense*
  • Polycystic Kidney Diseases / genetics
  • Polycystic Kidney Diseases / physiopathology*
  • Twins, Monozygotic

Substances

  • Membrane Proteins
  • TMEM67 protein, human