Sebastian syndrome

Definition:

Sebastian platelet syndrome (SPS) is a hereditary giant platelet disorder characterized by thrombocytopenia and the presence of neutrophil inclusions. It has been suggested that mutations in MYH9 result in this disease.

References:

[1]. James G White, et al. A variant of the Sebastian platelet syndrome with unique neutrophil inclusions. Platelets. 2002 Mar;13(2):121-7. [Content Brief]

[2]. M Seri, et al. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet. 2000 Sep;26(1):103-5. [Content Brief]

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