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Phelan-McDermid syndrome presenting with autistic spectrum: are we underdiagnosing chromosomal diseases in patients with autism?

Journal of Neurology volume 260, pages 2900–2902 (2013)Cite this article

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We have no conflict of interest.

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Full consent was obtained from the patient’s parents for the case report and figures publication.

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  1. Department of Neurology, Universidade Federal de São Paulo, Botucatu Street, 740, Vila Clementino, São Paulo, Brazil

    Wladimir Bocca Vieira de Rezende Pinto, José Luiz Pedroso, Paulo Victor Sgobbi de Souza, Acary Souza Bulle Oliveira & Orlando Graziani Povoas Barsottini

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  1. Wladimir Bocca Vieira de Rezende Pinto
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  2. José Luiz Pedroso
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  3. Paulo Victor Sgobbi de Souza
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  4. Acary Souza Bulle Oliveira
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  5. Orlando Graziani Povoas Barsottini
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Correspondence to Wladimir Bocca Vieira de Rezende Pinto.

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de Rezende Pinto, W.B.V., Pedroso, J.L., de Souza, P.V.S. et al. Phelan-McDermid syndrome presenting with autistic spectrum: are we underdiagnosing chromosomal diseases in patients with autism?. J Neurol 260, 2900–2902 (2013). https://doi.org/10.1007/s00415-013-7127-4

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  • DOI: https://doi.org/10.1007/s00415-013-7127-4

Keywords

  • Autism Spectrum Disorder
  • Autism Spectrum Disorder
  • Rett Syndrome
  • MECP2 Gene
  • Velocardiofacial Syndrome