Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2).

@article{Smith1998BehavioralPO,
  title={Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2).},
  author={Ann C M Smith and Elisabeth M. Dykens and Frank S. Greenberg},
  journal={American journal of medical genetics},
  year={1998},
  volume={81 2},
  pages={
          179-85
        }
}
Smith-Magenis syndrome (SMS) is a distinct and clinically recognizable multiple congenital anomaly (MCA) and mental retardation syndrome caused by an interstitial deletion of chromosome 17 p11.2. The phenotype of SMS has been well described and includes: a characteristic pattern of physical features; a hoarse, deep voice; speech delay with or without associated hearing loss; signs of peripheral neuropathy; variable levels of mental retardation; and neurobehavioral problems. Although self-injury… CONTINUE READING

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