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Article

Value of combined phenotypic markers in identifying inheritance of familial adenomatous polyposis.

Gut - 1 Oct 1991

Giardiello F M, Offerhaus G J, Traboulsi E I, Graybeal J C, Maumenee I H, Krush A J, Levin L S, Booker S V, Hamilton S R

Abstract excerpt

Familial adenomatous polyposis is an autosomal dominant disease characterised by the development of hundreds of colorectal adenomas in young adults. Occult radio-opaque jaw lesions and pigmented ocular fundus lesions (formerly called congenital hypertrophy of the retinal pigment epithelium) are extraintestinal phenotypic markers for this disorder. We evaluated the usefulness of the combination of these markers...

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

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Identifiers

PMID: 1659551
DOI: 10.1136/gut.32.10.1170
PMCID: PMC1379380

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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.

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