Screening for ELANE, HAX1 and GFI1 gene mutations in children with neutropenia and clinical characterization of two novel mutations in ELANE gene

BACKGROUND: Congenital neutropenia is a rare disease. Recurrent infections since young age are the presentation. The most common mutation causing severe congenital neutropenia (SCN) and cyclic neutropenia (CyN) is the ELANE gene. The objectives of this study were to screen the three common genetic m...

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Detalles Bibliográficos
Autores principales: Komvilaisak, Patcharee, Yudhasompop, Najwa, Kanchanakamhaeng, Kittima, Hongeng, Suradej, Pakakasama, Samart, Anurathapan, Usanarat, Pongphitcha, Pongpak, Songdej, Duantida, Sasanakul, Werasak, Sirachainan, Nongnuch
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10666431/
https://www.ncbi.nlm.nih.gov/pubmed/37993852
http://dx.doi.org/10.1186/s12887-023-04428-w

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