Intermittent low platelet counts hampering diagnosis of X-linked thrombocytopenia in children: report of two unrelated cases and a novel mutation in the gene coding for the Wiskott-Aldrich syndrome protein

Intermittent low platelet counts hampering diagnosis of X-linked thrombocytopenia in children: report of two unrelated cases and a novel mutation in the gene coding for the Wiskott-Aldrich syndrome protein

Abstract Background Thrombocytopenia can occur in different circumstances during childhood and although immune thrombocytopenia is its most frequent cause, it is important to consider other conditions, especially when there is a persistent or recurrent low platelet count. We report two cases of inte...

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Bibliographic Details
Main Authors: Samuel Souza Medina, Lúcia Helena Siqueira, Marina Pereira Colella, Gabriela Goes Yamaguti-Hayakawa, Bruno Kosa Lino Duarte, Maria Marluce Dos Santos Vilela, Margareth Castro Ozelo
Format: Article
Language:English
Published: BMC 2017-06-01
Series:BMC Pediatrics
Subjects:
Immune thrombocytopenia (ITP)
thrombocytopenia
Wiskott-Aldrich syndrome (WAS)
Wiskott-Aldrich syndrome protein (WASP)
X-linked thrombocytopenia (XLT)
Online Access:http://link.springer.com/article/10.1186/s12887-017-0897-6

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