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

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

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...

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Bibliographic Details
Main Authors: Ting Ge, Xinyue Zhang, Yongmei Xiao, Yizhong Wang, Ting Zhang
Format: Article
Language:English
Published: BMC 2019-01-01
Series:BMC Medical Genetics
Subjects:
Autosomal recessive disorder
Child
Compound heterozygote mutations
Progressive cholestatic liver disease
TJP2
Online Access:http://link.springer.com/article/10.1186/s12881-019-0753-7

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http://link.springer.com/article/10.1186/s12881-019-0753-7

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