참고문헌
- Rao AK. Congenital disorders of platelet secretion and signal transduction. In : Colman RW, Hirsch J, Marder VJ, Clowes A, Goerge JN, eds. Haemostasis and Thrombosis : Basic Principles and Clinical Practice. Philadelphia : J.B. Lippincott, 2001:890-904
- Drachman JG. Inherited thrombocytopenia : when a low platelet count does not mean ITP. Blood 2004;103:390-8 https://doi.org/10.1182/blood-2003-05-1742
- Rao AK, Jalagadugula G, Sun L. Inherited defects in platelet signaling mechanisms. Semin Thromb Haemost 2004; 30:525-35 https://doi.org/10.1055/s-2004-835673
- Hayward CPM, Rao AK, Cattaneo M. Congenital platelet disorders : overview of their mechanism, diagnostic evaluation and treatment. Hemophilia 2006;12(Suppl 3):128-36
- Balduni CL, Iolascon A, Savoia A. Inherited thrombocytopenia : from genes to therapy. Hematologica 2002;87:860-80
- Hartwig J, Italiano J Jr. The birth of the platelet. J Thromb Haemost 2003;1:1580-6 https://doi.org/10.1046/j.1538-7836.2003.00331.x
- Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, et al. X-linked thrombocytopenia and Wiscott- Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet 1995;9:414-7 https://doi.org/10.1038/ng0495-414
- Dowton SB, Beardsley D, Jamison D, Blattner S, Li FP. Studies of a familial platelet disorder. Blood 1985;65:557-63
- Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, et al. Mutation in MYH9 result in the May- Hegglin anomaly, and Fechtner and Sebastian syndrome. The May-Hegglin/Fechtner Syndrome Consortium. Nat Genet 2000;26:103-5 https://doi.org/10.1038/79063
- Heath KE, Campos-Barros A, Toren A, Rozenfeld-Granot G, Carlsson LE, Savige J, et al. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias : May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet 2001;69:1033-45 https://doi.org/10.1086/324267
- Baek HJ, Kook H, Song ES, Kim SY, Kim HJ, Lee JS, et al. MYH-related disorder in a family-Autosomal dominant Epstein giant platelet syndrome. Korean J Pediatr Hematol Oncol 2003;10:99-104
- Kook H, Nam HS, Baek HJ, Kim YO, Eom KH, Kee HJ, et al. Clinical characteristics of autosomal dominant giant platelet syndromes and mutation analysis of MYH9. Korean J Hematol 2006;41:16-27 https://doi.org/10.5045/kjh.2006.41.1.16
- Mhawech P, Saleem A. Inherited giant platelet disorders. Classification and literature review. Am J Clin Pathol 2000; 113:176-90 https://doi.org/10.1309/FC4H-LM5V-VCW8-DNJU
- Kunishima S, Matsushita T, Kojima T, Sako M, Kimura F, Jo EK, et al. Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorder: Association of subcellular localization with MYH9 mutation. Lab Invest 2003;83:115-22 https://doi.org/10.1097/01.LAB.0000050960.48774.17
- Dong F, Li S, Pujol-Moix N, Luban NLC, Shin SW, Seo JH, et al. Genotype-phenotypecorrelation in MYH9-related thrombocytopenia. Br J Haematol 2005;130:620-7 https://doi.org/10.1111/j.1365-2141.2005.05658.x
- Saito H, Matsushita T, Yamamoto K, Kojima T, Kunishima S. Giant platelet syndrome. Hematology 2005;10: Suppl 1:41-6 https://doi.org/10.1080/10245330512331389881
- Matsushita T, Hayashi H, Kunishima S, Hayashi M, Ikejiri M, Takeshita K, et al. Targeted disruption of mouse ortholog of the human MYH9 reponsible for macrothrombocytopenia with different organ involvement : hematological, nephrological, and otological studies of heterozygous KO mice. Biochem Biophys Res Commun 2004;325:1163-71 https://doi.org/10.1016/j.bbrc.2004.10.147
- Wylie SR, Chantler PD. Separate but linked functions of conventional myosins modulate adhesion and neurite outgrowth. Nat Cell Biol 2001;3:88-92 https://doi.org/10.1038/35050613
- Lopez JA, Andrews RK, Afshar-Kharghan V, Berndt MC. Bernard-Soulier syndrome. Blood 1998;91:4397-418
- Savoia A, Balduni CL, Savino M, Noris P, Del Vecchio M, Perrotta S, et al. Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood 2001;97:1330-5 https://doi.org/10.1182/blood.V97.5.1330
- Nichols KE, Crispino JD, Poncz M, White JG, Orkin SH, Maris JM. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet 2000;24:266-70 https://doi.org/10.1038/73480
- Raslova H, Komura E, Le Couedie JP, Larbret F, Debili N, Feunteun J, et al. FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombocytopenia. J Clin Invest 2004;114:77-84 https://doi.org/10.1172/JCI21197
- Droulin A, Favier R, Masse JM, Debili N, Schmitt A, Elbim C, et al. Newly recognized cellular abnormalities in the gray platelet syndrome. Blood 2001;98:1382-91 https://doi.org/10.1182/blood.V98.5.1382
- Nurden P, Chretien F, Poujol C, Winckler J, Borel-Derlon A, Nurden A. Platelet untrastructural abnormalities in three patients with type 2B von Willebrand disease. Br J Haematol 2000;10:704-14
- Poon MC, d'Oiron R. Recombinant activated factor VII (NovoSeven) treatment of platelet-related bleeding disorders. International Registry on Recombinant Factor VIIa and Congenital Platelet Disorders Group. Blood Coagul Fibrinolysis 2000;11:S55-68 https://doi.org/10.1097/00001721-200004001-00013
- Locatelli F, Rossi G, Balduni C. Haematopoietic stem cell transplantation for the Bernard-Soulier syndrome. Ann Intern Med 2003;138:79