Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency
HAX1 deficiency has recently been identified as a cause of severe congenital neutropenia (SCN), but little is known about the phenotype. We described an SCN patient with a homozygous 256C-to-T transition causing an R86X mutation in the HAX1 gene. Notably, the patient has been complicated by epilepsy...
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| Autors principals: | , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Ferrata Storti Foundation
2007-12-01
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| Col·lecció: | Haematologica |
| Accés en línia: | https://haematologica.org/article/view/4687 |
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