RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism

BACKGROUND: Copy number variants in coding and noncoding genomic regions have been implicated as risk factor for schizophrenia (SCZ). Rare duplications of the RB1CC1 gene were found enriched in SCZ patients. Considering that the effect of such duplications on RB1CC1 expression has never been evaluat...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Errichiello, Edoardo, Giorda, Roberto, Gambale, Antonella, Iolascon, Achille, Zuffardi, Orsetta, Giglio, Sabrina
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Clinical Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7963413/
https://ncbi.nlm.nih.gov/pubmed/33340270
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1561
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