Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations
โ Scribed by Teekakirikul, Polakit; Milewicz, Dianna M.; Miller, David T.; Lacro, Ronald V.; Regalado, Ellen S.; Rosales, Ana Maria; Ryan, Daniel P.; Toler, Tomi L.; Lin, Angela E.
- Book ID
- 118272191
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 114 KB
- Volume
- 161
- 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 JPโHHT was described that is also caused by mutatio
## Abstract Aortic aneurysm and dissection cause significant morbidity and mortality. There are several known single gene disorders that predispose to isolated aortic disease and eventually aneurysm and dissection. __FBN1__ mutations are associated with multiple clinical phenotypes, including Marfa