Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient

BACKGROUND: Severe Congenital Neutropenia type 4 (SCN4), is a rare autosomal recessive condition, due to mutations in the G6PC3 gene. The phenotype comprises neutropenia of variable severity and accompanying anomalies. CASE PRESENTATION: We report a male patient with confirmed G6PC3 deficiency prese...

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Detalles Bibliográficos
Autores principales: Moradian, Negar, Zoghi, Samaneh, Rayzan, Elham, Seyedpour, Simin, Jimenez Heredia, Raul, Boztug, Kaan, Rezaei, Nima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10257254/
https://www.ncbi.nlm.nih.gov/pubmed/37296469
http://dx.doi.org/10.1186/s13223-023-00804-4

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