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Article

Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder.

Annals of clinical and translational neurology - 1 Mar 2020

Brunet Theresa, Radivojkov-Blagojevic Milena, Lichtner Peter, Kraus Verena, Meitinger Thomas, Wagner Matias

Abstract excerpt

The RBL2 locus has been associated with intelligence and educational attainment but not with a monogenic disorder to date. RBL2 encodes p130, a member of the retinoblastoma protein family, which is involved in mediating neuron survival and death. Previous studies on p130 knockout mice revealing embryonic death and impaired neurogenesis underscore the importance of RBL2 in brain development. Exome sequencing in...

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Identifiers

PMID: 32105419
DOI: 10.1002/acn3.50992
PMCID: PMC7086002

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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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