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A 22q13.33 duplication harbouring the SHANK3 gene: does it cause neuropsychiatric disorders?

A young man with neuropsychiatric problems has a small 22q13.33 duplication. We suggest this causes his condition. His disorder may represent a 22q13.33 behavioural phenotype. In childhood, he was diagnosed with mild intellectual disability. He was later diagnosed with Tourette syndrome, atypical au...

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Detalhes bibliográficos
Publicado no:BMJ Case Rep
Main Authors: Johannessen, Maria, Haugen, Inger Breistein, Bakken, Trine Lise, Braaten, Øivind
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6827803/
https://ncbi.nlm.nih.gov/pubmed/31678916
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-228258
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