Progressive familial intrahepatic cholestasis type 5 due to a novel mutation in the NR1H4 gene | BMC Pediatrics

The loss of FXR function due to mutations in the NR1H4 gene, located on chromosome 12q23, causes severe cholestasis and liver damage, resulting in a very rare form of PFIC (PFIC type 5) [2, 13]. Only 14 cases have so far been reported in the…