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Alagille Syndrome: Diagnostic Challenges and Advances in Management

6 Nov 2020

Abstract excerpt

Alagille syndrome (ALGS) is a multisystem disease characterized by cholestasis and bile duct paucity on liver biopsy in addition to variable involvement of the heart, eyes, skeleton, face, kidneys, and vasculature. The identification of JAG1 and NOTCH2 as disease-causing genes has deepened our understanding of the molecular mechanisms underlying ALGS. However, the variable expressivity of the clinical phenotype...

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Share to Cholangiocarcinoma and Gallbladder Cancer Studies
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PMID: 33172025
DOI: 10.3390/diagnostics10110907

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