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Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation.

Mariam GoubranAyodeji AderibigbeEmmanuel JacqueminCatherine GuettierSafwat GirgisVincent BainAndrew L Mason
Published in: BMC medical genetics (2020)
Teenage patients referred for liver transplantation with cryptogenic liver disease should undergo work up for PFIC3. An accurate diagnosis of PFIC 3 is key for optimal management, therapeutic intervention, and avoidance of complications before the onset of end-stage liver disease.
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