Clinical and Molecular Genetic Study of an Alagille Syndrome Type 1 Case.

Abstract excerpt

INTRODUCTION: Alagille syndrome (ALGS) is a rare autosomal dominant disorder with several clinical manifestations including facial, hepatic, cardiovascular, skeletal, and renal complications. ALGS is a result of pathogenic variants in either JAG1 or NOTCH2 genes, which lead to the disruption of the Notch signaling pathway. Here, we present the case of a 17-year-old female patient, clinically and genetically...

Topics

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

• Share to Adolescent
• Share to Alagille Syndrome
• Share to Exome Sequencing