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Genetics in ophthalmology: molecular blueprints of retinoblastoma

1 Sept 2023

Abstract excerpt

This review presents current knowledge on the molecular biology of retinoblastoma (RB). Retinoblastoma is an intraocular tumor with hereditary and sporadic forms. 8,000 new cases of this ocular malignancy of the developing retina are diagnosed each year worldwide. The major gene responsible for retinoblastoma is RB1, and it harbors a large spectrum of pathogenic variants. Tumorigenesis begins with mutations that...

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PMID: 37658463
DOI: 10.1186/s40246-023-00529-w

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