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[Progressive familial intrahepatic cholestasis type 3].

ABSTRACT: Progressive familial intrahepatic cholestasis is caused by mutations in the ABCB4 gene and belongs to the family of familial intrahepatic cholestais disorders inherited in an autosomal recessive pattern. To date, about 200 patients with various hepatobiliary disorders associated with ABCB4 gene mutations have been described in the literature. The aim of this manuscript was to describe the pathogenesis, clinical presentation, diagnostic process and treatment of progressive familial intrahepatic cholestais type 3, based on the literature review.

SUBMITTER: Lipinski P

PROVIDER: S-EPMC8522827 | biostudies-literature |

REPOSITORIES: biostudies-literature

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