Article
A unique presentation of Wiskott-Aldrich syndrome in relation to platelet size.
Pediatric blood & cancer - 1 Jul 2011
Patel Payal D, Samanich Joy M, Mitchell William B, Manwani Deepa
Abstract excerpt
Wiskott-Aldrich Syndrome (WAS) is a triad of immunodeficiency, eczema, and thrombocytopenia. Despite the heterogeneity of genetic and clinical findings, a correlation with small platelet size is routinely observed. Herein we describe a case with a unique phenotype that links normal mean platelet volume with the classic characteristics of this disease. The diagnosis was verified by genetic analysis showing a novel...
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