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Article

Highly impaired platelet ultrastructure in two families with novel IKZF5 variants.

Platelets - 19 May 2021

Leinoe Eva, Kjaersgaard Mimi, Zetterberg Eva, Ostrowski Sisse, Greinacher Andreas, Rossing Maria

Abstract excerpt

Heterozygous variants in the IKZF5 gene, encoding transcription factor Pegasus, were recently discovered to be causal of inherited thrombocytopenia (IT). We screened 90 patients suspected of inherited thrombocytopenia for variants in 101 genes associated with inherited bleeding disorders and report the clinical presentation of two Danish families with novel variants in IKZF5. Platelet ultrastructure and...

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PMID: 32419556
DOI: 10.1080/09537104.2020.1764921

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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