Liver disease in childhood: which role for Genetics
Andrea Pietrobattista, Emanuele Agolini2, Giuseppe Maggiore1
1UOC di Epatologia, Gastroenterologia e nutrizione, Ospedale Pediatrico Bambino Gesù, IRCCS 2Unità di ricerca in Citogenomica Traslazionale, Ospedale Pediatrico Bambino Gesù, IRCCS
Children presenting with chronic liver disease or acute liver failure often have an underlying genetic disorder. Recently the diffusion of next-generation sequencing (NGS) technology, including targeted gene panels and whole-exome sequencing (WES) have opened promising possibilities to identify the molecular background of rare diseases,also in the field of pediatric hepatology and liver transplantation.