Yong-Lin Yang

[Analysis a patient with Dubin-Johnson syndrome due to a rare c.4120C>T nonsense variant of ABCC2 gene].

The clinical, histopathological, and immunohistochemical findings in the woman with mild conjugated hyperbilirubinemia with normal aminotransferases and cholestatic enzymes supported the diagnosis of DJS, but confirmation of biallelic involvement requires further segregation or phase analysis.