SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations
Keywords: CD; citrin deficiency; NICCD; neonatal intrahepatic cholestasis; CTLN2; citrullinemia type 2; FTTDCD; failure to thrive and dyslipidemia; SLC25A13; solute carrier family 25 member 13; INH; idiopathic neonatal hepatitis; ALP; alkaline phosphatase; ALT; ala