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Article

Macrothrombocytopenia/stomatocytosis specially associated with phytosterolemia.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis - 1 Nov 2012

Wang Gaifeng, Cao Lijuan, Wang Zhaoyue, Jiang Minghua, Sun Xionghua, Bai Xia, Ruan Changgeng

Abstract excerpt

Phytosterolemia is a rare autosomal recessive disease of plant sterol metabolism, the pathophysiological features of which are high plasma levels of plant sterols and xanthomatosis caused by mutations of ABCG5 and ABCG8 genes, and the combination of hemolysis and macrothrombocytopenia is an unusual clinical manifestation. All the patients of the 3 unrelated phytosterolemia first presented with prominent...

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Source

Identifiers

PMID: 22297561
DOI: 10.1177/1076029611435090

Genes

ABCG5
ABCG8

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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