Autor: Ekaterina Nuzhnaya

Case Report: Mild BRIC-like cholestasis despite a gross USP53 deletion—novel findings and literature review

Nov 21, 2025

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por

Ekaterina Nuzhnaya

en Articulos, Case Report, Enfermedades Raras, Frontiers in Genetics

We report a pediatric case of cholestatic liver disease associated with two novel compound heterozygous variants in the USP53 gene: a truncating c.1219A>T (p.Lys407*) variant inherited from the father and a maternally inherited gross deletion involving…