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Article

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

Journal of thrombosis and haemostasis : JTH - 1 Sept 2017

Bastida J M, Benito R, Janusz K, Díez-Campelo M, Hernández-Sánchez J M, Marcellini S, Girós M, Rivera J, Lozano M L, Hortal A, Hernández-Rivas J M, González-Porras J R

Abstract excerpt

Essentials Diagnosis of sitosterolemia, a rare recessive or syndromic disorder, is usually delayed. Peripheral blood smear is extremely useful for establishing the suspicion of sitosterolemia. High-throughput sequencing technology enables the molecular diagnosis of inherited thrombocytopenias. Accurate characterization of sitosterolemia helps us determine appropriate management. SUMMARY: Background Sitosterolemia...

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Source

Identifiers

PMID: 28696550
DOI: 10.1111/jth.13777

Genes

ABCG5
ABCG8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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