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Article

Genotype-phenotype correlation in the presentation of retinoblastoma among 149 patients.

Experimental eye research - 1 May 2016

Frenkel Shahar, Zloto Ofira, Sagi Michal, Fraenkel Avishag, Pe'er Jacob

Abstract excerpt

In this work, we describe the association between a germline RB1 mutation and disease presentation characteristics of retinoblastoma. The study evaluates a retrospective cohort of 164 of the 295 patients with retinoblastoma who were treated at a single center between 1988 and 2013 and who were referred for genetic evaluation. Peripheral blood was evaluated for RB1 mutations via Multiplex Ligation-dependent Probe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27068507
DOI: 10.1016/j.exer.2016.04.002

Provenance

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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