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

Ting GeXinyue ZhangYongmei XiaoYizhong WangTing Zhang

Published in: BMC medical genetics (2019)

We report a Chinese female PFIC child with novel compound heterozygous mutations of TJP2. Genetic testing by NGS is valuable in the clinical diagnosis of hereditary liver disease.

Keyphrases

mental health
multiple sclerosis
liver injury
early onset
liver fibrosis
drug induced