Associated Papers
The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.
Goto S et al.
Genes, 2026
MYH9-related inherited thrombocytopenia: the genetic spectrum, underlying mechanisms, clinical phenotypes, diagnosis, and management approaches.
Shen K et al.
Research and Practice in Thrombosis and Haemostasis, 2024
39309229 (PubMed )
Supplement: mmc3.xlsx › ClinVar
Effects of specific disease mutations in non-muscle myosin 2A on its structure and function.
Casas-Mao D et al.
The Journal of Biological Chemistry, 2024
38042490 (PubMed )
Supplement: mmc1.docx
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL
A sporadic MYH9-related disease in a Chinese boy with p.A95T mutation.
Zhang W et al.
Hematology (amsterdam, Netherlands), 2020
Identification of a Novel MYH9 Mutation in a Young Adult With Inherited Thrombocytopenia and Recurrent Seizures by Targeted Exome Sequencing.
Yang EJ et al.
Journal of Pediatric Hematology/oncology, 2020
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.
Pecci A et al.
Gene, 2018
A Japanese pedigree with a p.A95V mutation in the MYH9 gene demonstrates inherited macrothrombocytopenia without Alport manifestations.
Yokoi S et al.
Annals of Hematology, 2016
Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders.
Saposnik B et al.
Molecular Genetics & Genomic Medicine, 2014
A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly.
Jang MJ et al.
Yonsei Medical Journal, 2012
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