Clinical utility gene card for: Joubert syndrome

Eur J Hum Genet. 2011 Sep;19(9). doi: 10.1038/ejhg.2011.49. Epub 2011 Mar 30.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple
  • Cerebellar Diseases / diagnosis
  • Cerebellar Diseases / genetics*
  • Cerebellum / abnormalities
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / genetics*
  • Humans
  • Kidney Diseases, Cystic / diagnosis
  • Kidney Diseases, Cystic / genetics*
  • Retina / abnormalities
  • Sensitivity and Specificity

Supplementary concepts

  • Agenesis of Cerebellar Vermis