NR1H4 and progressive familial intrahepatic cholestasis: Biallelic loss-of-function variants in NR1H4 (p.Arg176*, p.Tyr139_Asn140insLys and a 31.7 kb deletion spanning the first two coding exons) have been reported to associate with progressive familial intrahepatic cholestasis (PFIC) characterized by liver dysfunction, elevated aminotransferases, hyperbilirubinemia, and elevated prothrombin time27.