Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.
| Author | |
|---|---|
| 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. |
| Year of Publication | :
2000
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| Journal | :
Gut
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| Volume | :
46
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| Issue | :
5
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| Number of Pages | :
656-60
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| ISSN Number | :
0017-5749
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| URL | :
https://gut.bmj.com/lookup/pmidlookup?view=long&pmid=10764709
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| DOI | :
10.1136/gut.46.5.656
|
| Short Title | :
Gut
|
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