PFIC3is a lethal disease characterized by an early onset of cholestasis,liver cirrhosis, and end-stage liver disease, at risk of HCC, withlife-threatening consequences without a liver transplant.3 About 300 ABCB4 variants have been described,which encode different MDR3 protein forms with different degrees offunctional impairment. The gene discussed is ABCB4; the disease is liver disorder.