Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 significance of the CHRPE finding in view of this new evidence is discussed.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adenomatous Polyposis Coli
Share to Adolescent
Share to Age Factors

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to APC gene

Share to FAP gene

Share to Genes, APC

Share to Mutation

Source

Identifiers

PMID: 9373466
DOI: 10.1038/eye.1997.65

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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

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 retinal pigment epithelium: a marker in familial adenomatous polyposis].Semantic proximity Read ↗

Fundus lesions of adenomatous polyposis.Semantic proximity Read ↗

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 (CHRPE) in familial colorectal cancer.Semantic proximity Read ↗

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

Incidence and predictive value of congenital hypertrophy of retinal pigment epithelium in Chinese familial adenomatous polyposis patients.Semantic proximity Read ↗

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

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

Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in 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 ↗

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

⌁Select a neighboring publication to make it the new centre.