Jagged1 mutations in patients ascertained with isolated congenital heart defects

Abstract excerpt

Mutations in Jagged1 cause Alagille syndrome (AGS), a pleiotropic disorder with involvement of the liver, heart, skeleton, eyes, and facial structures. Cardiac defects are seen in more than 95% of AGS patients. Most commonly these are right-sided defects ranging from mild peripheral pulmonic stenosis to severe forms of tetralogy of Fallot. AGS demonstrates highly variable expressivity with respect to all of the...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Congenital Anomalies and Fetal Surgery
• Share to Gallbladder and Bile Duct Disorders
• Share to Pediatric Hepatobiliary Diseases and Treatments