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A case of familial X-linked thrombocytopenia with a novel WAS gene mutation
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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Pediatric Society
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3693046/ https://www.ncbi.nlm.nih.gov/pubmed/23807894 http://dx.doi.org/10.3345/kjp.2013.56.6.265 |