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Article

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

Human genetics - 1 Nov 1994

Wallis Y L, Macdonald F, Hultén M, Morton J E, McKeown C M, Neoptolemos J P, Keighley M, Morton D G

Abstract excerpt

Mutations in the adenomatous polyposis coli (APC) gene are responsible for the disease familial adenomatous polyposis (FAP), a dominantly inherited predisposition to colorectal cancer. The most common extra-colonic manifestation is congenital hypertrophy of the retinal pigment epithelium (CHRPE), expressed in up to 90% of FAP kindreds. Chain-terminating APC mutations were characterised in 26 unrelated FAP...

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Source

Identifiers

PMID: 7959691
DOI: 10.1007/BF00211023

Genes

APC
FAP

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis.PMID 7959691Read ↗

Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis.Semantic proximity Read ↗

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

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

Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature.Semantic proximity Read ↗

Fundus lesions of adenomatous polyposis.Semantic proximity Read ↗

[Congenital hypertrophy of retinal pigment epithelium: a marker 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 and APC mutations in Chinese with 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 ↗

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

Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444.Semantic proximity Read ↗

Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene.Semantic proximity Read ↗

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