Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.

TitleAnalysis of genetic and phenotypic heterogeneity in juvenile polyposis.
Publication TypeJournal Article
Year of Publication2000
JournalGut
Volume46
Issue5
Pagination656-60
ISSN0017-5749
Abstract

Juvenile polyposis syndrome (JPS) is characterised by gastrointestinal (GI) hamartomatous polyposis and an increased risk of GI malignancy. Juvenile polyps also occur in the Cowden (CS), Bannayan-Ruvalcaba-Riley (BRRS) and Gorlin (GS) syndromes. Diagnosing JPS can be problematic because it relies on exclusion of CS, BRRS, and GS. Germline mutations in the PTCH, PTEN and DPC4 (SMAD4) genes can cause GS, CS/BRRS, and JPS, respectively.

URLhttp://gut.bmj.com/cgi/pmidlookup?view=long&pmid=10764709
Short TitleGut
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