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Article

Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients.

Cell - 3 Dec 1993

Olschwang S, Tiret A, Laurent-Puig P, Muleris M, Parc R, Thomas G

Abstract excerpt

In humans, alteration of the tumor suppressor gene, APC, causes adenomatous polyposis coli, a condition causing predisposition to colorectal cancer. The syndrome inconsistently associates characteristic patches of congenital hypertrophy of the retinal pigment epithelium (CHRPE). Ocular examination revealed that patients expressing CHRPE tend to cluster within specific families. The exact APC mutation was...

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Identifiers

PMID: 8252631
DOI: 10.1016/0092-8674(93)90539-3

Genes

APC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients.PMID 8252631Read ↗

Fundus lesions of adenomatous polyposis.Semantic proximity Read ↗

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Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis.Semantic proximity Read ↗

Assessment of the value of congenital hypertrophy of the retinal pigment epithelium as an ocular marker for familial adenomatous polyposis coli.Semantic proximity Read ↗

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer.Semantic proximity Read ↗

Congenital hypertrophy of the retinal pigment epithelium and APC mutations in Chinese with familial adenomatous polyposis.Semantic proximity Read ↗

Congenital hypertrophy of retinal pigment epithelium (CHRPE) in patients with familial adenomatous polyposis (FAP); a polyposis registry experience.Semantic proximity Read ↗

Genotype-phenotype correlations in attenuated adenomatous polyposis coli.Semantic proximity Read ↗

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Use of congenital hypertrophy of the retinal pigment epithelium as a clinical sign of familial adenomatous polyposis.Semantic proximity Read ↗

Congenital hypertrophy of the retinal pigment epithelium and APC mutations in two Chinese families with familial adenomatous polyposis.Semantic proximity Read ↗

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