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Common Deletion of SMAD4 in Juvenile Polyposis Is a Mutational Hotspot

โœ Scribed by James R. Howe; Jason Shellnut; Brian Wagner; John C. Ringold; Mohamed G. Sayed; Abul F. Ahmed; Patrick M. Lynch; Christopher I. Amos; Pertti Sistonen; Lauri A. Aaltonen


Book ID
117853892
Publisher
American Society of Human Genetics
Year
2002
Tongue
English
Weight
149 KB
Volume
70
Category
Article
ISSN
0002-9297

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Overlapping spectra of SMAD4 mutations i
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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