Article

Sitosterolemia with Double Variant in ABCG8 gene: A Case Report

2026-03-19

Abstract excerpt

<title>Abstract</title> <p> <bold>Introduction</bold> Sitosterolemia is an autosomal recessive genetic disorder characterized by increased intestinal absorption of plant sterols. It is caused by pathogenic variants in the <italic>ABCG5</italic> or <italic>ABCG8</italic> genes, which encode subunits of transporters belonging to the ABC (ATP-Binding Cassette) protein family, responsible for the efflux of ster...

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Literature Corpus work: 56c66783-7055-5e89-bd3b-8aafbe5fcbe3
DOI: 10.21203/rs.3.rs-8841938/v1

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