Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.
Giovanni VitaleStefano GittoFrancesco RaimondiAlessandro MattiaccioVilma MantovaniRanka VukoticAntonietta D'ErricoMarco SeriRobert B RussellPietro AndreonePublished in: Journal of gastroenterology (2017)
Mutations in the genes responsible for PFIC may be involved in both young and adults with cryptogenic cholestasis in a considerable number of cases, including in heterozygous status. Diagnosis should always be suspected, particularly in the presence of itching.