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Article

RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling.

PloS one - 1 Jan 2017

Parma Diana, Ferrer Marcela, Luce Leonela, Giliberto Florencia, Szijan Irene

Abstract excerpt

Retinoblastoma (RB) is an inherited childhood ocular cancer caused by mutations in the tumor suppressor RB1 gene. Identification of RB1 mutations is essential to assess the risk of developing retinoblastoma in the patients´ relatives. Retinoblastoma is a potentially curable cancer and an early diagnosis is critical for survival and eye preservation. Unilateral retinoblastoma is mostly non-heritable and results...

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Identifiers

PMID: 29261756
DOI: 10.1371/journal.pone.0189736
PMCID: PMC5738096

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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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