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[Retinoblastoma in Argentina: study of germline variants of the RB1 gene].

Medicina - 1 Jan 2026

Ducatelli María Eugenia, Lavia Mariana, Martinez Elizabeth, Freytes Candela, Piergrossi Noelia, Campos Bárbara, Obregon María Gabriela, Zubizarreta Pedro, Alonso Cristina, Rubio Patricia

Abstract excerpt

INTRODUCTION: Retinoblastoma is an embryonal origin neoplasm of the developing retina. It represents the most frequent ocular cancer in childhood. The presentation can be unilateral, bilateral or trilateral. In patients with bilateral retinoblastoma, germline variants in the RB1 gene are observed in approximately 90%, while in unilateral retinoblastoma in 10-25% of cases. Molecular study is essential for familial...

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Identifiers

PMID: 41643084

Genes

RB1

Provenance

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

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