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Article

The presence of congenital hypertrophy of the retinal pigment epithelium in a subgroup of patients with adenomatous polyposis coli mutations.

Eye (London, England) - 1 Jan 1997

Reck A C, Bunyan D, Eccles D, Humphry R

Abstract excerpt

Patients expressing congenital hypertrophy of the retinal pigment epithelium (CHRPE) are clustered within specific families with familial adenomatous polyposis (FAP). CHRPE has been found to be dependent on the position of the mutation in the adenomatous polyposis coli (APC) gene. The significanc...

Topics

Adenomatous Polyposis Coli
Adolescent
Adult
Age Factors
Exons
Genes, APC
Humans
Hypertrophy
Middle Aged
Mutation
Pigment Epithelium of Eye

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 9373466
DOI: 10.1038/eye.1997.65

Genes

APC
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9373466-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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The presence of congenital hypertrophy of the retinal pigment epithelium in a subgroup of patients with adenomatous polyposis coli mutations.PMID 9373466Read ↗

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