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Pathology of Progressive Familial Intrahepatic Cholestasis: An update.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2026

Mitra Suvradeep, Vij Mukul, Menon Jagadeesh, Shanmugum Naresh, Rela Mohamed

Abstract excerpt

Progressive familial intrahepatic cholestasis (PFIC) comprises a heterogeneous group of rare, autosomal recessive liver disorders characterised by defective bile formation and secretion, leading to progressive cholestasis, pruritus, growth impairment, and early onset liver failure. Advances in molecular genetics have identified distinct causative pathogenic variants involving key hepatocellular transporters of...

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PMID: 41960685
DOI: 10.1177/10935266261429304

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