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Article

Revisiting low penetrance retinoblastoma: an integrated clinical, genetic, and bioinformatic analysis.

Human molecular genetics - 23 Mar 2026

Avnat Eden, Shapira Guy, Lustig Yael, Citrin Jonathan, Rojanaporn Duangnate, Kaewkhaw Rossukon, Jo Dong Hyun, Kim Jeong Hun, Shomron Noam, Friedman Eitan, Fabian Ido Didi

Abstract excerpt

Retinoblastoma (RB) is typically associated with highly penetrant pathogenic sequence variants (PSVs) in the RB1 gene; however, some families exhibit low penetrance RB (LPRB). We aimed to determine the penetrance rate and identify genetic and clinical characteristics of LPRB. To that end two cohorts were analyzed: 250 genetically confirmed LPRB cases identified through systematic literature review and 78...

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Identifiers

PMID: 41934609
DOI: 10.1093/hmg/ddag026
PMCID: PMC13050150

Genes

RB1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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