Genome sequencing identifies uniparental isodisomy of chromosome 2p and a homozygous ABCG5 variant, enabling effective treatment of pediatric hypercholesterolemia after 13 years of therapeutic resistance: A case report
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Sitosterolemia is a rare inherited disorder caused by mutations in ABCG5 or ABCG8 genes, resulting in abnormal accumulation of phytosterols. Clinically, it often resembles familial hypercholesterolemia (FH), which is much more common. The present study describ... ...
