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Genotype-phenotype correlations in familial adenomatous polyposis (FAP) and its influence on therapeutic decisions

✍ Scribed by Matthias Jungck; Waltraut Friedl; Reiner Caspari; Christof Lamberti; Peter Propping; Tilman Sauerbruch


Book ID
119425366
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
234 KB
Volume
118
Category
Article
ISSN
0016-5085

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Mutations in the adenomatous polyposis coli (APC) gene are responsible for the disease familial adenomatous polyposis (FAP), a dominantly inherited predisposition to colorectal cancer. The most common extra-colonic manifestation is congenital hypertrophy of the retinal pigment epithelium (CHRPE), ex