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Article

Phenotypic heterogeneity of sitosterolemia.

Journal of lipid research - 1 Dec 2004

Wang Jian, Joy Tisha, Mymin David, Frohlich Jiri, Hegele Robert A

Abstract excerpt

Sitosterolemia is a rare autosomal recessive disorder of lipoprotein metabolism characterized by xanthomas and increased plasma concentrations of plant sterols, such as sitosterol. Causative mutations occur in either the ABCG5 or ABCG8 gene, each of which encodes a sterol half-transporter express...

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Source

Identifiers

PMID: 15375183
DOI: 10.1194/jlr.M400310-JLR200

Genes

ABCG5
ABCG8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15375183-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Sitosterolemia with Double Variant in ABCG8 gene: A Case ReportSemantic 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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