Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome

Am J Med Genet A. 2004 Dec 1;131(2):205-8. doi: 10.1002/ajmg.a.30227.
No abstract available

Publication types

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

MeSH terms

  • Brain Stem / abnormalities
  • Central Nervous System Diseases / genetics*
  • Cerebellum / abnormalities
  • DNA Mutational Analysis
  • Female
  • Homeodomain Proteins / genetics*
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Syndrome
  • Transcription Factors / genetics*

Substances

  • BARHL1 protein, human
  • BARX1 protein, human
  • Homeodomain Proteins
  • Nerve Tissue Proteins
  • Transcription Factors