Bibliografia

  • Online Mendelian Inheritance in Man (OMIM™). Center for Medical Genetics, Johns Hopkins University, Baltimore, MD, MIM #312750.
    http://www3.ncbi.nlm.nih.gov/omim/
  • Hagberg B, Aicardi J, Dias K, Ramos O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome. Ann Neurol. 1983;14:471–479.
  • Trevathan E, Moser HW. Diagnostic criteria for Rett syndrome. Ann Neurol. 1988;23:425–428.
  • Sirianni N et al. Rett syndrome: confirmation of X-linked dominant inheritance and localization of the gene to Xq28. Am J Hum Genet. 1998;63:1552–1558.
  • Amir RE et al. Mutations in MECP2 cause Rett syndrome. Nature Genetics. 1999;23:185–188.
  • Leonard H, Bower C. Is the girl with Rett syndrome normal at birth? Dev Med Child Neurol. 1998;40:115–121.
  • Hagberg B. Rett syndrome: clinical peculiarities and biological mysteries. Acta Paediatr. 1995;84:971–976.
  • Jan MMS et al. Male Rett syndrome variant: application of diagnostic criteria. Pediatr Neurol. 1999;20:238–240.
  • Cheadle JP et al. MECP2 mutations and disease severity. Hum Mol Genet. 2000;12:1119–1129.
  • Xiang F et al. Mutation screening in Rett syndrome patients. J Med Genet. 2000;37:250–255.
  • Wan M et al. Recurrent MECP2 mutations at CpG hotspots. Am J Hum Genet. 1999;65:1520–1529.
  • Rett e estereotipias (Neurology, Apr 2007)
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