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

• Main Authors: Eu Kyoung Lee (Author), Yeun-Joo Eem (Author), Nack-Gyun Chung (Author), Myung Shin Kim (Author), Dae Chul Jeong (Author)
• Formato: Livro
• Publicado em: Korean Pediatric Society, 2013-06-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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...