Wiskott–Aldrich syndrome in a child presenting with macrothrombocytopenia

Wiskott–Aldrich syndrome in a child presenting with macrothrombocytopenia

Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease resulting from variants in the WAS gene, characterized by a triad of immunodeficiency, eczema, and thrombocytopenia. Despite the fact that WAS is traditionally differentiated from immune thrombocytopenia (ITP) by small size of WAS p...

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Bibliographic Details
Main Authors: Jose Maria Bastida, Monica Del Rey, Nuria Revilla, Rocio Benito, Martin Perez-Andrés, Berta González, Susana Riesco, Kamila Janusz, Jose Padilla, Ana Hortal Benito-Sendin, David Bueno, Elena Blanco, Maria Hernández-Rivas, Vicente Vicente, Jose Rivera, Ramon González-Porras, Maria Luisa Lozano
Format: Article
Language:English
Published: Taylor & Francis Group 2017-05-01
Series:Platelets
Subjects:
genetic diagnosis
immune thrombocytopenia
inherited thrombocytopenia
next-generation sequencing
wiskott–aldrich syndrome
Online Access:http://dx.doi.org/10.1080/09537104.2016.1246715

Internet

http://dx.doi.org/10.1080/09537104.2016.1246715

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