Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations

Am J Med Genet A. 2011 Aug;155A(8):2024-7. doi: 10.1002/ajmg.a.34098. Epub 2011 Jul 7.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Child
  • Circadian Rhythm*
  • Female
  • Genetic Association Studies
  • Humans
  • Male
  • Melatonin / analogs & derivatives
  • Melatonin / metabolism*
  • Melatonin / urine
  • Point Mutation*
  • Sleep Disorders, Circadian Rhythm / genetics
  • Sleep Stages
  • Smith-Magenis Syndrome / metabolism
  • Smith-Magenis Syndrome / physiopathology*
  • Trans-Activators
  • Transcription Factors / genetics*

Substances

  • RAI1 protein, human
  • Trans-Activators
  • Transcription Factors
  • 6-sulfatoxymelatonin
  • Melatonin