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Original Article

Diagnostic Approach of Wiskott-Aldrich Syndrome

Dong Jin Hwang, Jun Won Yang, Sun Young Kim, Ho Keun Yi, Dae Yeol Lee, Pyoung Han Hwang

Clin Exp Pediatr. 2004;47(7):726-734. Published online July 15, 2004

Objective : A probable diagnosis of Wiskott-Aldrich syndrome(WAS) should be considered in any boy presenting with unusual bleeding, congenital thrombocytopenia and small platelets. The definitive diagnosis of WAS is usually made by the detection of WASP gene mutation or a decrease or absence of the WAS protein(WASP) in blood cells using molecular genetic analysis. However, these methods are too time-consuming...

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