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 e...
Topics
- Adenomatous Polyposis Coli
- Adolescent
- Adult
- Aged
- Child
- Eye Diseases
- Female
- Fundus Oculi
- Humans
- Hypertrophy
- Jaw
- Jaw Diseases
- Male
- Middle Aged
- Phenotype
- Pigment Epithelium of Eye
- Radiography
- Sensitivity and Specificity