USP53 and intrahepatic cholestasis: These patients presented a similar phenotype, mainly including early onset intrahepatic cholestasis and presented five distinct homozygous likely LoF variants in USP53 NM_019050.2:c.169C>T, (p.Arg57*); NM_019050.2:c.475_476delCT, (p.Leu159fs); NM_019050.2:c.822+1delG, p:?; NM_019050.2: c.951delT, (p.Phe317fs); NM_019050.2:c.1214dupA, (p.Asn405fs).