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Rare disease
CASE REPORT
Phelan-McDermid syndrome due to SHANK3 mutation in an intellectually disabled adult male: successful treatment with lithium

Authors

  • Jos I M Egger Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute of Psychiatry, Venray, NetherlandsDonders Institute for Brain, Cognition and Behaviour, Centre for Cognition, Radboud University, Nijmegen, Netherlands PubMed articlesGoogle scholar articles
  • Willem M A Verhoeven Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute of Psychiatry, Venray, NetherlandsDepartment of Psychiatry, Erasmus University Medical Centre, Rotterdam, Netherlands PubMed articlesGoogle scholar articles
  • Renske Groenendijk-Reijenga Centre for People with Intellectual Disabilities, Ipse de Bruggen, Zwammerdam, Netherlands PubMed articlesGoogle scholar articles
  • Sarina G Kant Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Jos I M Egger, j.egger{at}psych.ru.nl
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Citation

Egger JIM, Verhoeven WMA, Groenendijk-Reijenga R, et al
Phelan-McDermid syndrome due to SHANK3 mutation in an intellectually disabled adult male: successful treatment with lithium
Case Reports 2017;2017:bcr-2017-220778.

Publication history

  • Accepted September 15, 2017
  • First published September 28, 2017.
Online issue publication 
August 07, 2018

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