๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations

โœ 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

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Overlapping spectra of SMAD4 mutations i
โœ Carol Gallione; Arthur S. Aylsworth; Jill Beis; Terri Berk; Barbara Bernhardt; R ๐Ÿ“‚ Article ๐Ÿ“… 2010 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 133 KB ๐Ÿ‘ 2 views

## 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

FBN1 mutations in patients with descendi
โœ Ariel Brautbar; Scott A. LeMaire; Luis M. Franco; Joseph S. Coselli; Dianna M. M ๐Ÿ“‚ Article ๐Ÿ“… 2010 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 82 KB ๐Ÿ‘ 2 views

## 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