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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 position of the mutation within the APC gene. In particular, the correlation between congenital hypertrophy of the...

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Identifiers

PMID: 7485167
PMCID: PMC1801370

Genes

APC
FAP

Provenance

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Source receipt: pubmed, retrieved 7 Sept 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 ↗

Rare Germline Variants in the Adenomatous Polyposis Coli Gene Associated with Dental and Osseous Anomalies.Semantic proximity Read ↗

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

Cranial desmoid tumor associated with homozygous inactivation of the adenomatous polyposis coli gene in a 2-year-old girl with familial adenomatous polyposis.Semantic proximity Read ↗

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