Novel mutation of the TJP2 gene in a Chinese child with progressive cholestatic liver disease coexistent with hearing impairment

摘要

cqvip:To the Editor:Diagnosis and management of infantile cholestatic liver disease with unknown etiology remain challenging.With recent rapid development of genetic technology,several gene mutations have been found to be the cause of this disease[1].Progressive familial intrahepatic cholestasis(PFIC)is a group of rare diseases that mainly occur in neonates and infants.Some children might progress to end-stage liver disease that requires liver transplantation.