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Article

MYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopenia.

Pediatric blood & cancer - 1 Jul 2021

Natesirinilkul Rungrote, Sosothikul Darintr, Komwilaisak Patcharee, Pongtanakul Bunchoo, Narkbunnum Nattee, Yudhasompop Najwa, Mekjarusgool Pimsiri, Niparuck Pimjai, Boonyawat Kochawan, Kunishima Shinji, Sirachainan Nongnuch

Abstract excerpt

The diagnosis of MYH9 disorder is guided by recognizing granulocyte Döhle body-like inclusion bodies and large/giant platelets in the peripheral blood smear. Immunofluorescence study of nonmuscle myosin heavy chain IIA is a sensitive screening method for diagnosis of MYH9 disorder. The diagnosis can then be confirmed by genetic analysis. A total of 67 patients with macrothrombocytopenia were included, of which 11...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33855781
DOI: 10.1002/pbc.29055

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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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MYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopenia.PMID 33855781Read ↗

Advances in the understanding of MYH9 disorders.Semantic proximity Read ↗

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A rare case of MYH9 disorders presenting with macrothrombocytopenia and deafness caused by MYH9-R702C mutation.Semantic proximity Read ↗

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

Late onset and high-frequency dominant hearing loss in a family with MYH9 disorder.Semantic proximity Read ↗

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

A unique immunofluorescence method promotes accurate diagnosis in MYH9 disorders: a case report.Semantic proximity Read ↗

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.Semantic proximity Read ↗

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