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Article

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

Molecular genetics & genomic medicine - 1 Jan 2021

Errichiello Edoardo, Giorda Roberto, Gambale Antonella, Iolascon Achille, Zuffardi Orsetta, Giglio Sabrina

Abstract excerpt

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 evaluated and partial gene duplications of RB1CC1 have also been reported in SCZ patients, it is unclear whether the...

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PMID: 33340270
DOI: 10.1002/mgg3.1561
PMCID: PMC7963413

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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