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T2030 Large Genomic Deletions of SMAD4, Bmpr1a and PTEN in Juvenile Polyposis

✍ Scribed by BROSENS, L; VANHATTEM, W; DELENG, W; MORSINK, F; LENS, S; CARVALHO, R; GIARDIELLO, F; OFFERHAUS, J

Book ID
123588206
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
102 KB
Volume
134
Category
Article
ISSN
0016-5085

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## Abstract Juvenile polyposis syndrome is a hamartomatous intestinal polyposis associated with malignant changes in 20% of patients at an early age. Germline mutations mostly involve two genes, __SMAD4__ and __BMPR1__, with no strong evidence of phenotype‐genotype correlation, which could be predi