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Article

Molecular Pathogenesis of Inherited Platelet Dysfunction.

Biomolecules - 30 Oct 2025

Rodríguez-Alén Agustín, Moscardó Antonio, Bastida José M, Rivera José

Abstract excerpt

Inherited platelet function disorders (IPFD) are characterized by normal platelet count and morphology but impaired function due to pathogenic variants in genes encoding membrane receptors, granule constituents, or intracellular signaling proteins. Glanzmann's thrombasthenia, the most representative IPFD, results from ITGA2B or ITGB3 mutations that disrupt the αIIbβ3 integrin complex, producing severe...

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Source

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Identifiers

PMID: 41301446
DOI: 10.3390/biom15111528
PMCID: PMC12649936

Genes

FERMT3
ITGA2B
ITGB3
RASGRP2

Provenance

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