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Article

A unique immunofluorescence method promotes accurate diagnosis in MYH9 disorders: a case report.

Journal of pediatric hematology/oncology - 1 Sept 2004

Yoshinari Miyako, Kunishima Shinji, Miyabayashi Shigeaki, Saito Hidehiko, Tsuchiya Shigeru

Abstract excerpt

The identification of a mutation in the MYH9 gene in hereditary macrothrombocytopenia has established a distinct entity proposed as "MYH9 disorders," which previously have often been misdiagnosed as chronic immune thrombocytopenic purpura. The authors describe clinical and laboratory characterization of a family with the disorder demonstrating giant platelets, thrombocytopenia, and leukocyte inclusion bodies. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15342975

Genes

MYH9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A case report of a family with MYH9 gene mutation-related disease in an ethnic minority group and literature review.Semantic proximity Read ↗

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