THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome

Abstract excerpt

Background & Aims Alagille syndrome is an autosomal-dominant, multisystem disorder caused primarily by mutations in JAG1 , resulting in bile duct paucity, cholestasis, cardiac disease, and other features. Liver disease severity in Alagille syndrome is highly variable, however, factors influencing the hepatic phenotype are unknown. We hypothesized that genetic modifiers may contribute to the variable expressivity...

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