Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

@article{Potocki2003VariabilityIC,
  title={Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]},
  author={Lorraine Potocki and Christine J. Shaw and Paweł Stankiewicz and James R Lupski},
  journal={Genetics in Medicine},
  year={2003},
  volume={5},
  pages={430-434}
}
Purpose This report delineates the phenotypic features in a cohort of 58 individuals with Smith-Magenis syndrome (SMS) and compares features of patients with the common microdeletion to those of patients with variable sized deletions, and the three previously reported patients who harbor a mutation in RAI1 (retinoic acid induced 1).Methods From December 1990 thru September 1999, 58 persons with SMS were enrolled in a 5-day multidisciplinary clinical protocol at the General Clinical Research… CONTINUE READING

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Low adaptive behavior and cognitive functioning in patients with Smith-Magenis syndrome [del(17)(p11.2p11.2)

NS Madduri, M Turcich, JR Lupski, L. Potocki
Am J Hum Genet • 2002

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