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Hereditary hemorrhagic telangiectasia and juvenile polyposis: an overlap of syndromes

✍ Scribed by Erica D. Poletto; Angela M. Trinh; Terry L. Levin; Anthony M. Loizides


Publisher
Springer-Verlag
Year
2009
Tongue
English
Weight
251 KB
Volume
40
Category
Article
ISSN
0301-0449

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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 JP–HHT was described that is also caused by mutatio

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