Article
A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report.
The Turkish journal of pediatrics - 1 Jan 2023
Ateş Burcu Berberoğlu, Ceylan Ahmet Cevdet, Hızal Gülin, Duran Fatih, Doğan Hayriye Tatlı, Hızlı Şamil
Abstract excerpt
BACKGROUND: Benign recurrent intrahepatic cholestasis (BRIC) is a rare cause of cholestasis with recurrent episodes of jaundice and pruritus without extrahepatic bile duct obstruction. A mutation in the USP53 gene is known to cause BRIC-like cholestasis with normal serum gamma-glutamyltransferase (GGT) levels. CASE: We report a 16-year-old boy with recurrent episodes of cholestasis since 6 months of age with...
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