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...
محفوظ في:
| المؤلفون الرئيسيون: | , , , , , , , , , |
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| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
Ferrata Storti Foundation
2007-12-01
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| سلاسل: | Haematologica |
| الوصول للمادة أونلاين: | https://haematologica.org/article/view/4687 |
| الوسوم: |
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