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Tuğba Kazmacan

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Open access 2026

Progressive familial intrahepatic cholestasis type 3 (PFIC3), a rare chronic liver disease: A case report

Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare autosomal recessive chronic liver disease characterized by reduced secretion of bile phospholipids resulting from pathogenic variants in the ABCB4 gene. In pediatric cases, it typically presents with jaundice, pruritus, hepatosplenomegaly, and eleva...

Fulden Kavas Coşkuner, Tuğba Kazmacan, Burcu Yeter et al. · 0 citations

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