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Article

Genetic counselling in retinoblastoma: importance of ocular fundus examination of first degree relatives and linkage analysis.

The British journal of ophthalmology - 1 Mar 1991

Onadim Z, Hykin P G, Hungerford J L, Cowell J K

Abstract excerpt

We report an unusual family pedigree segregating the retinoblastoma predisposition gene. Expression of the phenotype in different individuals in this family ranges from asymptomatic gene carriers, regressed tumours, through unifocal to bilateral multifocal lesions. Because of the unusual pattern of inheritance in this family, initial genetic counselling at a local hospital did not take into account the...

Topics

Alleles
Eye Neoplasms
Female
Fundus Oculi
Genes, Retinoblastoma
Genetic Carrier Screening
Genetic Counseling
Genetic Linkage
Humans
Male
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Retinoblastoma

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Identifiers

PMID: 2012779
DOI: 10.1136/bjo.75.3.147
PMCID: PMC1042293

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2012779-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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