A De Novo Mutation in MYH9 in a Child With Severe and Prolonged Macrothrombocytopenia
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Oncology,Hematology,Pediatrics, Perinatology and Child Health
Reference29 articles.
1. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes;Heath;Am J Hum Genet,2001
2. Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function;Hu;J Biol Chem,2002
3. MYH9 related platelet disorders—often unknown and misdiagnosed;Althaus;Klin Padiatr,2011
4. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium;Seri;Nat Genet,2000
5. MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness;Seri;Medicine,2003
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