A commentary on the diagnostic utility of exome sequencing in Joubert syndrome and related disorders

J Hum Genet. 2013 Feb;58(2):57. doi: 10.1038/jhg.2012.138. Epub 2012 Nov 29.
No abstract available

Publication types

  • Comment

MeSH terms

  • Abnormalities, Multiple
  • Cerebellar Diseases / diagnosis*
  • Cerebellum / abnormalities
  • Exome*
  • Eye Abnormalities / diagnosis*
  • Female
  • Humans
  • Kidney Diseases, Cystic / diagnosis*
  • Male
  • Retina / abnormalities
  • Sequence Analysis, DNA*

Supplementary concepts

  • Agenesis of Cerebellar Vermis