- Combined occurrence of Bernard-Soulier syndrome and prekallikrein deficiency
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Shahverdi , Abolghasemi H, Ahmadinejad M
- KMID: 2390990
- Blood Res.
- 2017 Sep;52(3):229-231.
- doi: 10.5045/br.2017.52.3.229
No abstract available. -
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- Giant platelet syndrome
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Kook H
- KMID: 1607308
- Korean J Pediatr.
- 2006 Aug;49(8):833-838.
- doi: 10.3345/kjp.2006.49.8.833
Giant platelet syndrome is a group of unique disorders characterized by the presence of abnormally large platelets, and usually accompanied by thrombocytopenia. Most cases of giant platelets are encountered in... -
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- MYH9-related Disorder in a Family: Autosomal Dominant Epstein Giant Platelet Syndrome
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Back HJ, Kook H, Byun HS, Song ES, Kim SY, Lee JS, Jo EK, Nam HS, Hwang TJ
- KMID: 2278278
- Korean J Pediatr Hematol Oncol.
- 2003 Apr;10(1):99-104.
The term MYH9-related disorders indicates a group of autosomal dominant illnesses, formerly known as May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome and Epstein syndrome, caused by mutations of MYH9, the gene... -
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- Clinical Characteristics of Autosomal Dominant Giant Platelet Syndromes and Mutation Analysis of MYH9
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Kook H, Nam HS, Baek HJ, Kim YO, Eom GH, Kee HJ, Cho D, Shin MG, Lee JJ, Kim HJ, Kook H, Hwang TJ
- KMID: 2252323
- Korean J Hematol.
- 2006 Mar;41(1):16-27.
- doi: 10.5045/kjh.2006.41.1.16
BACKGROUND: The autosomal dominant giant platelet syndromes (GPS), characterized by triads of giant platelets, thrombocytopenia, and Dohle-like leukocyte inclusions are caused by MYH9 mutation, a gene encoding the nonmuscle myosin... -
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