Article
Association of extracolonic manifestations of familial adenomatous polyposis with acetylation phenotype in a large FAP kindred.
European journal of human genetics : EJHG - 1 Jan 2000
Scott R J, Taeschner W, Heinimann K, Müller H, Dobbie Z, Morgenthaler S, Hoffmann F, Peterli B, Meyer U A
Abstract excerpt
Familial adenomatous polyposis coli (FAP) has been shown to be associated with germline mutations of the adenomatous polyposis gene (APC) on chromosome 5. Extra-colonic manifestations also occur in FAP and include desmoid tumors, epidermoid cysts and osteomas. The combination of FAP with extracolonic symptoms is commonly referred to as Gardner's syndrome. It remains difficult, however, to predict which patients...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.