Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.

  title={Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.},
  author={Lorraine Potocki and Daniel Gordon Glaze and Denise Tan and Sung Sup Park and Catherine D. Kashork and Lisa Gail Shaffer and Russell J Reiter and James R Lupski},
  journal={Journal of medical genetics},
  volume={37 6},
BACKGROUND Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with a hemizygous deletion of chromosome 17, band p11.2. Characteristic features include neurobehavioural abnormalities such as aggressive and self-injurious behaviour and significant sleep disturbances. The majority of patients have a common deletion characterised at the molecular level. Physical mapping studies indicate that all patients with the common deletion are… CONTINUE READING


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