ArticleWorld journal of hepatology2026
Clinical spectrum and genotype-phenotype correlation of
Article in World journal of hepatology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
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Abstract
backgroundProgressive familial intrahepatic cholestasis type 3, caused by mutations in the
aimTo describe the clinical spectrum and genotype-phenotype correlation of
methodsThis is a retrospective analysis of a prospectively maintained database from a single tertiary care centre. Children (≤ 18 years) with
resultsOf the 26 patients, 16 had biallelic mutations, and 10 had monoallelic mutations. Group 1 exhibited higher rates of positive family history (75%
conclusionMutations in the
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