Clinical utility gene card for: Joubert syndrome--update 2013

Eur J Hum Genet. 2013 Oct;21(10). doi: 10.1038/ejhg.2013.10. Epub 2013 Feb 13.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple
  • Cerebellar Diseases / diagnosis
  • Cerebellar Diseases / epidemiology
  • Cerebellar Diseases / genetics*
  • Cerebellum / abnormalities
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / epidemiology
  • Eye Abnormalities / genetics*
  • Genetic Loci
  • Genetic Predisposition to Disease
  • Humans
  • Kidney Diseases, Cystic / diagnosis
  • Kidney Diseases, Cystic / epidemiology
  • Kidney Diseases, Cystic / genetics*
  • Mutation
  • Retina / abnormalities*

Supplementary concepts

  • Agenesis of Cerebellar Vermis