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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Genomic Med
Prif Awduron: Errichiello, Edoardo, Giorda, Roberto, Gambale, Antonella, Iolascon, Achille, Zuffardi, Orsetta, Giglio, Sabrina
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2020
Pynciau:
Clinical Reports
Mynediad Ar-lein: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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