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Article

Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report.

Journal of medical case reports - 28 Jan 2026

Wu Li-Li, Zhang Li, Tang Ting-Ting, Zhou Yuan-Yuan, Chang Xin-Xia, Guo Wei, Yan Hong-Mei, Lin Huan-Dong

Abstract excerpt

BACKGROUND: Sitosterolemia is an autosomal recessive genetic disorder characterized by hypercholesterolemia and tendon/hip xanthomas, primarily caused by pathogenic mutations in the ABCG5 or ABCG8 gene. CASE PRESENTATION: We report the clinical features and therapeutic outcomes of a 29-year-old Chinese male patient diagnosed with sitosterolemia. The patient first presented with xanthomas in childhood and...

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Topics

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Share to Anticholesteremic Agents
Share to ATP Binding Cassette Transporter, Subfamily G, Member 5

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41606675
DOI: 10.1186/s13256-025-05814-x
PMCID: PMC12924262

Genes

ABCG5
ABCG8
NPC1L1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report.PMID 41606675Read ↗

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Compound heterozygous mutations in ABCG5 or ABCG8 causing Chinese familial Sitosterolemia.Semantic proximity Read ↗

Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous MutationSemantic proximity Read ↗

First case of sitosterolemia caused by double heterozygous mutations in ABCG5 and ABCG8 genes.Semantic proximity Read ↗

Sitosterolemia Exhibiting Severe Hypercholesterolemia with Tendon Xanthomas Due to Compound Heterozygous ABCG5 Gene Mutations Treated with Ezetimibe and Alirocumab.Semantic proximity Read ↗

Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.Semantic proximity Read ↗

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A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.Semantic proximity Read ↗

Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.Semantic proximity Read ↗

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