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Article

De Novo MYH9-Related Macrothrombocytopenia in a Toddler: Insights From Platelet Mass Index.

British journal of hospital medicine (London, England : 2005) - 26 Jan 2026

Kyriakidis Ioannis, Pelagiadis Iordanis, Stratigaki Maria, Katzilakis Nikolaos, Stiakaki Eftichia

Abstract excerpt

AIMS/BACKGROUND: Myosin heavy chain 9-related disease (MYH9-RD) is a rare inherited disorder characterised by macrothrombocytopenia, often misdiagnosed as immune thrombocytopenia (ITP). Early identification is crucial to prevent unnecessary treatments and to ensure appropriate monitoring. The present case aims to highlight the diagnostic challenges and clinical management of MYH9-RD in a toddler, emphasising the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41609159
DOI: 10.31083/BJHM50376

Genes

MYH9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

De Novo MYH9-Related Macrothrombocytopenia in a Toddler: Insights From Platelet Mass Index.PMID 41609159Read ↗

MYH9-related inherited thrombocytopenia: the genetic spectrum, underlying mechanisms, clinical phenotypes, diagnosis, and management approachesSemantic proximity Read ↗

Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia.Semantic proximity Read ↗

MYH-9 Related Platelet Disorders: Strategies for Management and DiagnosisSemantic proximity Read ↗

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.Semantic proximity Read ↗

MYH9-Related Platelet DisordersSemantic proximity Read ↗

MYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopenia.Semantic proximity Read ↗

Clinical and genetic characteristics of 40 patients with nonmuscle myosin heavy chain 9-related disease (MYH9-RD) misdiagnosed as immune thrombocytopenia: a retrospective analysis in China.Semantic proximity Read ↗

Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.Semantic proximity Read ↗

MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder.Semantic proximity Read ↗

A De Novo Mutation in MYH9 in a Child With Severe and Prolonged Macrothrombocytopenia.Semantic proximity Read ↗

[Clinical and genetic features of seven children with MYH9-related disease].Semantic proximity Read ↗

Hereditary thrombocytopenias: a growing list of disordersSemantic proximity Read ↗

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