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Mutations of SMAD4 account for both LAPS and Myhre syndromes

โœ Scribed by Noralane M. Lindor; Shanaka R. Gunawardena; Stephen N. Thibodeau


Book ID
111995200
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
52 KB
Volume
158A
Category
Article
ISSN
1552-4825

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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