Pigmented ocular fundus lesions and APC mutations in familial adenomatous polyposis.

doi:10.3109/13816819609057890

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Article

Pigmented ocular fundus lesions and APC mutations in familial adenomatous polyposis.

Ophthalmic genetics - 1 Dec 1996

Traboulsi E I, Apostolides J, Giardiello F M, Krush A J, Booker S V, Hamilton S R, Hussels I E

Abstract excerpt

BACKGROUND: Familial adenomatous polyposis (FAP) results from a germline mutation in the adenomatous polyposis coli (APC) gene on chromosome 5q21. The extracolonic manifestations of FAP include pigmented ocular fundus lesions (POFLS), cutaneous cysts, osteomas, occult radio-opaque jaw lesions, odontomas, desmoids, and extracolonic cancers. POFLS are present at birth in about 80% of patients with FAP and are...

Topics

Adenomatous Polyposis Coli
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 21
DNA Mutational Analysis
Exons
Female
Fundus Oculi
Genes, APC
Genetic Markers
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Pedigree

Phenotype

Pigment Epithelium of Eye

Point Mutation

Retinal Diseases

Source

Open in PubMed

Identifiers

PMID: 9010867
DOI: 10.3109/13816819609057890

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