Cholestasis: SUMMARY Part 2

Genetic defects in these canalicular transporters are responsible for several types of PFIC. PFIC-1 results from a mutation of the FIC1 gene. It also exhibits phenotypic heterogeneity: less severe disease occurs if the onset arises later in childhood, whereas mild expressions of nonprogressive liver disease can appear in the form of BRIC and intrahep-atic cholestasis [...]