Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease

• Main Authors: Ting Ge (Author), Xinyue Zhang (Author), Yongmei Xiao (Author), Yizhong Wang (Author), Ting Zhang (Author)
• Format: Book
• Published: BMC, 2019-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Progressive familial intrahepatic cholestasis (PFIC) is a group of genetic autosomal recessive disorders that predominantly affects young children and results in early-onset progressive liver damage. Several types of PFIC were defined based on different genetic aetiologies in las...