title: Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations.
authors: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
authors: Philip M
authors: PM
authors: Boone
authors: Russel J
authors: RJ
authors: Reiter
authors: Daniel G
authors: DG
authors: Glaze
authors: Dun-Xian
authors: DX
authors: Tan
authors: James R
authors: JR
authors: Lupski
authors: Lorraine
authors: L
authors: Potocki
mesh_terms: D000328:Adult; D002648:Child; D002940:Circadian Rhythm; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008550:Melatonin / Q000031:analogs & derivatives / Q000378:metabolism* / Q000652:urine; D017354:Point Mutation; D020178:Sleep Disorders, Circadian Rhythm / Q000235:genetics; D012894:Sleep Stages; D058496:Smith-Magenis Syndrome / Q000378:metabolism / Q000503:physiopathology*; D015534:Trans-Activators; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C431552:RAI1 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; C054513:6-sulfatoxymelatonin; D008550:Melatonin