A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report

CONCLUSION: This is the first case of USP53 disease from Türkiye with a novel mutation in the USP53 gene. This novel identification of the mutation of c.1558C > T at exon 14 can provide elucidative data for those who work in the field of intrahepatic cholestasis. Our case suggests that USP53 disease must be kept in mind in patients with recurrent intrahepatic cholestasis with normal serum GGT levels.PMID:38204320 | DOI:10.24953/turkjped.2023.367

Source: The Turkish Journal of Pediatrics - January 11, 2024 Category: Pediatrics Authors: Burcu Berbero ğlu Ateş Ahmet Cevdet Ceylan G ülin Hızal Fatih Duran Hayriye Tatl ı Doğan Şamil Hızlı Source Type: research