A nationwide survey of MYH9-related disease in Japan

[1] Kunishima S(2001)Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions J Hum Genet 46 722-729

[2] Matsushita T(2003)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) 82 203-215

[3] Kojima T(2000)Myosins: a diverse superfamily Biochim Biophys Acta 1496 3-22

[4] Seri M(2010)Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease Kidney Int 78 207-214

[5] Pecci A(2020)Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants Hum Mutat 41 277-290

[6] Di Bari F(2008)Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease Hum Mutat 29 409-417

[7] Cusano R(2008)Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome) Nephrol Dial Transplant 23 2690-2692

[8] Sellers JR(2019)Management of patients with severe Epstein syndrome: Review of four patients who received living-donor renal transplantation Nephrology (Carlton) 24 450-455

[9] Sekine T(2010)ABO-incompatible renal transplantation in Epstein syndrome Clin Transplant 24 31-34

[10] Konno M(2009)A rare case of Thromb Res 124 508-511

[1] Kunishima S(2001)Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions J Hum Genet 46 722-729

[2] Matsushita T(2003)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) 82 203-215

[3] Kojima T(2000)Myosins: a diverse superfamily Biochim Biophys Acta 1496 3-22

[4] Seri M(2010)Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease Kidney Int 78 207-214

[5] Pecci A(2020)Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants Hum Mutat 41 277-290

[6] Di Bari F(2008)Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease Hum Mutat 29 409-417

[7] Cusano R(2008)Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome) Nephrol Dial Transplant 23 2690-2692

[8] Sellers JR(2019)Management of patients with severe Epstein syndrome: Review of four patients who received living-donor renal transplantation Nephrology (Carlton) 24 450-455

[9] Sekine T(2010)ABO-incompatible renal transplantation in Epstein syndrome Clin Transplant 24 31-34

[10] Konno M(2009)A rare case of Thromb Res 124 508-511