TY - JOUR AU - Ge, Ting AU - Zhang, Xinyue AU - Xiao, Yongmei AU - Wang, Yizhong AU - Zhang, Ting PY - 2019 DA - 2019/01/18 TI - Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease JO - BMC Medical Genetics SP - 18 VL - 20 IS - 1 AB - 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 last decades. SN - 1471-2350 UR - https://doi.org/10.1186/s12881-019-0753-7 DO - 10.1186/s12881-019-0753-7 ID - Ge2019 ER -