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Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity

Haploinsufficiency of RAI1 results in Smith-Magenis syndrome (SMS), a disorder characterized by intellectual disability, multiple congenital anomalies, obesity, neurobehavioral abnormalities, and a disrupted circadian sleep-wake pattern. An inverted melatonin rhythm (i.e., melatonin peaks during the...

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Bibliografiske detaljer
Main Authors: Williams, Stephen R., Zies, Deborah, Mullegama, Sureni V., Grotewiel, Michael S., Elsea, Sarah H.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2012
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3370274/
https://ncbi.nlm.nih.gov/pubmed/22578325
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.04.013
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