References
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O’Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG, American College of Medical and Genomics (2013) ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 15(7):565–74. https://doi.org/10.1038/gim.2013.73
Sekine T, Konno M, Sasaki S, Moritani S, Miura T, Wong WS, Nishio H, Nishiguchi T, Ohuchi MY, Tsuchiya S, Matsuyama T, Kanegane H, Ida K, Miura K, Harita Y, Hattori M, Horita S, Igarashi T, Saito H, Kunishima S (2010) Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. Kidney Int 78(2):207–214. https://doi.org/10.1038/ki.2010.21
Han KH, Lee H, Kang HG, Moon KC, Lee JH, Park YS, Ha IS, Ahn HS, Choi Y, Cheong HI (2011) Renal manifestations of patients with MYH9-related disorders. Pediatr Nephrol 26(4):549–555. https://doi.org/10.1007/s00467-010-1735-3
Saposnik B, Binard S, Fenneteau O, Nurden A, Nurden P, Hurtaud-Roux MF, Schlegel N, M. Y. H. n. French (2014) Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-related disorders. Mol Genet Genomic Med 2(4):297–312. https://doi.org/10.1002/mgg3.68
Alving BM, Tarassoff PG, Moore J Jr, Leissenger CA, Fernandez-Bueno C (1986) Successful renal transplantation for Epstein syndrome. Am J Hematol 21(1):111–113. https://doi.org/10.1002/ajh.2830210113
Baumann J, Sachs L, Otto O, Schoen I, Nestler P, Zaninetti C, Kenny M, Kranz R, von Eysmondt H, Rodriguez J, Schaffer TE, Nagy Z, Greinacher A, Palankar R, Bender M (2022) Reduced platelet forces underlie impaired hemostasis in mouse models of MYH9-related disease. Sci Adv 8(20):eabn2627. https://doi.org/10.1126/sciadv.abn2627
Ogura M, Kikuchi E, Kaito H, Kamei K, Matsuoka K, Tanaka H, Kuroda T, Sekine T, Ito S (2010) ABO-incompatible renal transplantation in Epstein syndrome. Clin Transplant 24(Suppl 22):31–4. https://doi.org/10.1111/j.1399-0012.2010.01274.x
Hashimoto J, Hamasaki Y, Takahashi Y, Kubota M, Yanagisawa T, Itabashi Y, Muramatsu M, Kawamura T, Kumagai N, Ohwada Y, Sakai K, Shishido S (2019) Management of patients with severe Epstein syndrome: review of four patients who received living-donor renal transplantation. Nephrology (Carlton) 24(4):450–455. https://doi.org/10.1111/nep.13253
Freedman BI, Nagaraj SK, Lin JJ, Gautreaux MD, Bowden DW, Iskandar SS, Stratta RJ, Rogers J, Hartmann EL, Farney AC, Reeves-Daniel AM (2009) Potential donor-recipient MYH9 genotype interactions in posttransplant nephrotic syndrome after pediatric kidney transplantation. Am J Transplant 9(10):2435–2440. https://doi.org/10.1111/j.1600-6143.2009.02806.x
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This work was supported by a grant from the National Natural Science Foundation of China to Wei Wang (grant number 82000731).
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Li, X., Wang, W., Ni, X. et al. Successful living-related kidney transplantation in MYH9-related disorder with macrothrombocytopenia: lessons for the clinical nephrologist. J Nephrol 36, 1707–1709 (2023). https://doi.org/10.1007/s40620-023-01651-7
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DOI: https://doi.org/10.1007/s40620-023-01651-7