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SMAD4 Immunohistochemistry Reflects Genetic Status in Juvenile Polyposis Syndrome

โœ Scribed by Langeveld, D.; van Hattem, W. A.; de Leng, W. W. J.; Morsink, F. H.; ten Kate, F. J. W.; Giardiello, F. M.; Offerhaus, G. J. A.; Brosens, L. A. A.


Book ID
125511561
Publisher
American Association for Cancer Research
Year
2010
Tongue
English
Weight
607 KB
Volume
16
Category
Article
ISSN
1078-0432

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## Abstract Juvenile polyposis (JP) and hereditary hemorrhagic telangiectasia (HHT) are clinically distinct diseases caused by mutations in __SMAD4__ and __BMPR1A__ (for JP) and __endoglin__ and __ALK1__ (for HHT). Recently, a combined syndrome of JPโ€“HHT was described that is also caused by mutatio