Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations

Severe Congenital Neutropenia type 4 (SCN4, OMIM 612541) is a rare autosomal recessive disease due to mutations in the G6PC3 gene. The phenotype comprises neutropenia of variable severity and other anomalies including congenital heart defects, prominent superficial veins, uro-genital anomalies, faci...

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Detalles Bibliográficos
Autores principales: Notarangelo, Lucia Dora, Savoldi, Gianfranco, Cavagnini, Sara, Bennato, Veronica, Vasile, Sabrina, Pilotta, Alba, Plebani, Alessandro, Porta, Fulvio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4234865/
https://www.ncbi.nlm.nih.gov/pubmed/25391451
http://dx.doi.org/10.1186/s13052-014-0080-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4234865/
https://www.ncbi.nlm.nih.gov/pubmed/25391451
http://dx.doi.org/10.1186/s13052-014-0080-8

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