Article
Biallelic mutations in DCDC2 cause neonatal sclerosing cholangitis in a Chinese family.
Clinics and research in hepatology and gastroenterology - 1 Oct 2020
Lin Yuxiang, Zhang Jianxing, Li Xiaoli, Zheng Dezhu, Yu Xiurong, Liu Yichu, Lan Fenghua, Wang Zhihong
Abstract excerpt
BACKGROUND: Neonatal sclerosing cholangitis (NSC) is a severe cholestatic liver disease, which often develops into end-stage liver disease in childhood and requires liver transplantation. Mutations in CLDN1 and DCDC2 are confirmed to be the main pathogenic mechanism of NSC. METHODS: Whole exon sequencing (WES) was performed to find the possible disease-causing mutations of this family. The mutation was confirmed...
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