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Article

Genotype-phenotype correlation in MYH9-related thrombocytopenia.

British journal of haematology - 1 Aug 2005

Dong Fan, Li Sufeng, Pujol-Moix Núria, Luban Naomi L C, Shin Sang Won, Seo Jae Hong, Ruiz-Saez Arlette, Demeter Judit, Langdon Scott, Kelley Michael J

Abstract excerpt

Mutation of the non-muscle myosin heavy chain type II-A results in MYH9-related hereditary macrothrombocytopenia (HMTC), including four autosomal dominant platelet disorders: May-Hegglin anomaly (MHA), Sebastian (SBS), Fechtner (FS) and Epstein (EPS) syndrome. Denaturing high-performance liquid chromatography (DHPLC) was optimised for rapid screening of the seven exons harbouring all but one of the previously...

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Source

Identifiers

PMID: 16098078
DOI: 10.1111/j.1365-2141.2005.05658.x

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.

Related research

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Genotype-phenotype correlation in MYH9-related thrombocytopenia.PMID 16098078Read ↗

MYH9-Related Platelet DisordersSemantic proximity Read ↗

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

Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.Semantic proximity Read ↗

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

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

Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.Semantic proximity Read ↗

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

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

Clinical manifestation and molecular genetic characterization of MYH9 disorders.Semantic proximity Read ↗

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

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