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Yeun-Joo Eem (Eem YJ)

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Case Report

A case of familial X-linked thrombocytopenia with a novel WAS gene mutation

Eu Kyoung Lee, Yeun-Joo Eem, Nack-Gyun Chung, Myung Shin Kim, Dae Chul Jeong

Clin Exp Pediatr. 2013;56(6):265-268. Published online June 21, 2013

Crossref 1

Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in recurrent infection, eczema, and thrombocytopenia. However, the clinical features and severity of the disease vary according to the type of mutations in the WAS gene. Here, we describe the case...

DOI: https://doi.org/10.3345/kjp.2013.56.6.265

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