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Article

Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene.

American journal of human genetics - 1 Nov 1995

Davies D R, Armstrong J G, Thakker N, Horner K, Guy S P, Clancy T, Sloan P, Blair V, Dodd C, Warnes T W

Abstract excerpt

Familial adenomatous polyposis (FAP) is associated with a number of extraintestinal manifestations, which include osteomas, epidermoid cysts, and desmoid tumors, often referred to as "Gardner syndrome." Recent studies have suggested that some of the phenotypic features of FAP are dependent on the...

Topics

DNA
Gardner Syndrome
Genes, APC
Genotype
Humans
Mutation
Phenotype
Polymerase Chain Reaction

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 7485167
PMCID: PMC1801370

Genes

APC
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7485167-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene.PMID 7485167Read ↗

Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts.Semantic proximity Read ↗

Novel Mutation in APC Gene Associated with Multiple Osteomas in a Family and Review of Genotype-Phenotype Correlations of Extracolonic Manifestations in Gardner SyndromeSemantic proximity Read ↗

A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor.Semantic proximity Read ↗

The complex genotype-phenotype relationship in familial adenomatous polyposis.Semantic proximity Read ↗

A novel APC mutation associated with Gardner syndrome in a Chinese family.Semantic proximity Read ↗

Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis.Semantic proximity Read ↗

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The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis.Semantic proximity Read ↗

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

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

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