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Novel ELANE Gene Mutation in a Newborn with Severe Congenital Neutropenia: Case Report and Literature Review
Severe neutropenia is defined as an absolute neutrophil count (ANC) of less than 0.5 × 10 (9) /L. Severe congenital neutropenia (SCN) is an inborn disorder with maturation arrest of granulocytes due to various genetic abnormalities, which may lead to immunodeficiency. Among several associated geneti...
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| Publicado en: | J Pediatr Genet |
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| Autores principales: | , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Georg Thieme Verlag KG
2020
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| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7375850/ https://ncbi.nlm.nih.gov/pubmed/32714623 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-3399523 |
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