Article
The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome.
Diseases of the colon and rectum - 1 Aug 2012
O'Malley Margaret, LaGuardia Lisa, Kalady Matthew F, Parambil Joseph, Heald Brandie, Eng Charis, Church James, Burke Carol A
Abstract excerpt
BACKGROUND: Juvenile polyposis syndrome is a dominant GI polyposis syndrome defined by ≥ 5 GI juvenile polyps or ≥ 1 juvenile polyps with a family history of juvenile polyposis. Mutations in BMPR1A or SMAD4 are found in 50% of individuals. Hereditary hemorrhagic telangiectasia is a dominant disorder characterized by epistaxis, visceral arteriovenous malformations, and telangiectasias. Hereditary hemorrhagic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.