Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients.

@article{Gamba2011SmithMagenisSC,
  title={Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients.},
  author={Bruno Faulin Gamba and Gustavo Vieira and Deise Helena de Souza and Fernando de Freitas Monteiro and J J Lorenzini and Daniel Rocha Carvalho and D Morreti-Ferreira},
  journal={Genetics and molecular research : GMR},
  year={2011},
  volume={10 4},
  pages={2664-70}
}
Smith-Magenis syndrome (SMS) is a complex congenital anomaly characterized by craniofacial anomalies, neurological and behavioral disorders. SMS is caused by a deletion in region 17p11.2, which includes the RAI1 gene (90% of cases), or by point mutation in the RAI1 gene (10% of cases). Laboratory diagnosis is through cytogenetic analysis by GTG banding and molecular cytogenetic analysis by FISH. We carried out an active search for patients in Associations of Parents and Friends of Exceptional… CONTINUE READING