A nationwide survey of MYH9-related disease in Japan
Author:
Funder
Ministry of Health, Labour and Welfare
Publisher
Springer Science and Business Media LLC
Subject
Physiology (medical),Nephrology,Physiology
Link
https://link.springer.com/content/pdf/10.1007/s10157-023-02404-3.pdf
Reference22 articles.
1. Kunishima S, Matsushita T, Kojima T, et al. Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. J Hum Genet. 2001;46(12):722–9.
2. Seri M, Pecci A, Di Bari F, Cusano R, et al. 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. Medicine (Baltimore). 2003;82:203–15.
3. Sellers JR. Myosins: a diverse superfamily. Biochim Biophys Acta. 2000;1496(1):3–22.
4. Sekine T, Konno M, Sasaki S, et al. Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. Kidney Int. 2010;78:207–14.
5. Bury L, Megy K, Stephens JC, et al. Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants. Hum Mutat. 2020;41:277–90. https://doi.org/10.1002/humu.23927.
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1. MYH9-related disease with a normal platelet count;CEN Case Reports;2024-08-03
2. MYH9-related inherited thrombocytopenia: the genetic spectrum, underlying mechanisms, clinical phenotypes, diagnosis, and management approaches;Research and Practice in Thrombosis and Haemostasis;2024-08
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