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

• Hauptverfasser: Eu Kyoung Lee (Verfasst von), Yeun-Joo Eem (Verfasst von), Nack-Gyun Chung (Verfasst von), Myung Shin Kim (Verfasst von), Dae Chul Jeong (Verfasst von)
• Format: Buch
• Veröffentlicht: Korean Pediatric Society, 2013-06-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: Connect to this object online.

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 d...