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Thromb Haemost 2013; 110(03): 618-620
DOI: 10.1160/TH13-02-0175
DOI: 10.1160/TH13-02-0175
Letters to the Editor
Apparent genotype–phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule
Further Information
Publication History
Received:
27 February 2013
Accepted after major revision:
04 June 2013
Publication Date:
22 November 2017 (online)
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References
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- 2 Pecci A, Panza E, Pujol-Moix N. et al. Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat 2008; 29: 409-417.
- 3 Balduini CL, Pecci A, Savoia A. Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol 2011; 154: 161-174.
- 4 Pecci A, Biino G, Fierro T. et al. 2012. Alteration of liver enzymes is a feature of the MYH9-related disease syndrome. PLoS One 2012; 07: e35986.
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- 9 Gardner RJM, Sutherland GR. Chromosome abnormalities and genetic counselling. New York: Oxford University Press; 2004
- 10 Pecci A, Granata A, Fiore CE. et al. Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). Nephrol Dial Transplant 2008; 23: 2690-2692.
- 11 Pecci A, Gresele P, Klersy C. et al. Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Blood 2010; 116: 5832-5837.