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Annals of Hematology
Published in: Annals of Hematology 9/2015

01-09-2015 | Letter to the Editor

A novel MYH9 mutation in a patient with MYH9 disorders and platelet size-specific effect of romiplostim on macrothrombocytopenia

Authors: Jun Yamanouchi, Takaaki Hato, Shinji Kunishima, Toshiyuki Niiya, Hisashi Nakamura, Masaki Yasukawa

Published in: Annals of Hematology | Issue 9/2015

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Excerpt

Dear Editor, …
Literature
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Saposnik B, Binard S, Fenneteau O, Nurden A, Nurden P, Hurtaud-Roux MF, Schlegel N, French MYH (2014) Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-related disorders. Mol Genet Genomic Med 2(4):297–312. doi:10.​1002/​mgg3.​68 PubMedCentralPubMedCrossRef
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Pecci A, Klersy C, Gresele P, Lee KJ, De Rocco D, Bozzi V, Russo G, Heller PG, Loffredo G, Ballmaier M, Fabris F, Beggiato E, Kahr WH, Pujol-Moix N, Platokouki H, Van Geet C, Noris P, Yerram P, Hermans C, Gerber B, Economou M, De Groot M, Zieger B, De Candia E, Fraticelli V, Kersseboom R, Piccoli GB, Zimmermann S, Fierro T, Glembotsky AC, Vianello F, Zaninetti C, Nicchia E, Guthner C, Baronci C, Seri M, Knight PJ, Balduini CL, Savoia A (2014) MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Hum Mutat 35(2):236–247. doi:10.​1002/​humu.​22476 PubMedCrossRef
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Palandri F, Zoli M, Polverelli N, Noris P, Sollazzo D, Catani L, Vianelli N, Palandri G (2015) MYH9-related thrombocytopenia and intracranial bleedings: a complex clinical/surgical management and review of the literature. Br J Haematol. doi:10.​1111/​bjh.​13324 PubMed
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Pecci A, Barozzi S, d’Amico S, Balduini CL (2012) Short-term eltrombopag for surgical preparation of a patient with inherited thrombocytopenia deriving from MYH9 mutation. Thromb Haemost 107(6):1188–1189. doi:10.​1160/​TH12-01-0005 PubMedCrossRef
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Pecci A, Gresele P, Klersy C, Savoia A, Noris P, Fierro T, Bozzi V, Mezzasoma AM, Melazzini F, Balduini CL (2010) Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Blood 116(26):5832–5837. doi:10.​1182/​blood-2010-08-304725 PubMedCrossRef
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Gropper S, Althaus K, Najm J, Haase S, Aul C, Greinacher A, Giagounidis A (2012) A patient with Fechtner syndrome successfully treated with romiplostim. Thromb Haemost 107(3):590–591. doi:10.​1160/​TH11-07-0474 PubMedCrossRef
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Metadata
Title
A novel MYH9 mutation in a patient with MYH9 disorders and platelet size-specific effect of romiplostim on macrothrombocytopenia
Authors
Jun Yamanouchi
Takaaki Hato
Shinji Kunishima
Toshiyuki Niiya
Hisashi Nakamura
Masaki Yasukawa
Publication date
01-09-2015
Publisher
Springer Berlin Heidelberg
Published in
Annals of Hematology / Issue 9/2015
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-015-2416-x

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