Article
X-linked thrombocytopenia in three males with normal sized platelets due to novel WAS gene mutations.
Pediatric blood & cancer - 1 Dec 2014
Mantadakis Elpis, Sawalle-Belohradsky Julie, Tzanoudaki Marianna, Kanariou Maria, Chatzimichael Athanassios, Albert Michael H
Abstract excerpt
The authors describe two young brothers and a 12-year-old male with long-standing thrombocytopenia with normal sized platelets, in whom novel mutations of the WAS gene were identified. Their clinical picture and the in vitro assessment of the T-cell function were consistent with X-linked thrombocytopenia (XLT). A high index of suspicion for XLT is required, even in the setting of normal sized platelets for males...
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