SLC25A13 and neonatal intrahepatic cholestasis due to citrin deficiency: Genetic testing showed the presence of four distinct mutations, including c.51C > G (p.F17L) and c.760C > T (p.R254X) in SLC22A5 as well as c.615 + 5G > A and IVS16ins3kb in SLC25A13. All four mutations have previously been described as pathogenic in patients with PCD or NICCD [12, 13].