Clinical characteristics and <i>ABCC2 </i>genotype in Dubin-Johnson syndrome: A case report and review of the literature

Abstract

BACKGROUND: variants will that contribute to DJS identification. CASE SUMMARY: genotype exhibiting a pathogenic variant, namely c.2443C>T (p.Arg815*), which has not been reported previously in the domestic or foreign literature. CONCLUSION: mutations play an important role in the diagnosis of DJS, especially in patients with atypical presentations. Currently, NGS is used in the routine analysis of DJS cases and such tests of further cases will better illuminate the relationship between various genotypes and phenotypes of DJS.

Topics & Concepts