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Article

Clinical manifestation and molecular genetic characterization of MYH9 disorders.

Platelets - 1 Aug 2009

Provaznikova Dana, Geierova Vera, Kumstyrova Tereza, Kotlin Roman, Mikulenkova Dana, Zurkova Kamila, Matoska Vaclav, Hrachovinova Ingrid, Rittich Simon

Abstract excerpt

Currently, the May-Hegglin anomaly (MHA), Sebastian (SBS), Fechtner (FTNS) and Epstein (EPS) syndrome are considered to be distinct clinical manifestations of a single disease caused by mutations of the MYH9 gene encoding the heavy chain of non-muscle myosin IIA (NMMHC-IIA). Manifestations of these disorders include giant platelets, thrombocytopenia and combinations of the presence of granulocyte inclusions,...

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Source

Identifiers

PMID: 19557653
DOI: 10.1080/09537100902993022

Genes

MYH9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Clinical manifestation and molecular genetic characterization of MYH9 disorders.PMID 19557653Read ↗

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Linking the Landscape of MYH9-Related Diseases to the Molecular Mechanisms that Control Non-Muscle Myosin II-A Function in Cells.Semantic proximity Read ↗

[May-Hegglin anomaly--from genome research to clinical laboratory].Semantic proximity Read ↗

Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations.Semantic proximity Read ↗

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

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

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.Semantic proximity Read ↗

Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders.Semantic proximity Read ↗

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