Congenital Neutropenia with Specific Granulocyte Deficiency Caused by Novel Double Heterozygous SMARCD2 Mutations

SMARCD2 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 2) is critical for myelopoiesis. Recently, bi-allelic SMARCD2 mutations have been reported in five children, causing autosomal recessive congenital neutropenia with specific granulocytes deficien...

Descripción completa

Detalles Bibliográficos
Autores principales: Ibrahim, Abukhiran, Sharathkumar, Anjali, McLaughlin, Heather, Claassen, David, Bhagavathi, Sharathkumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498992/
https://www.ncbi.nlm.nih.gov/pubmed/36135322
http://dx.doi.org/10.3390/hematolrep14030038

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498992/
https://www.ncbi.nlm.nih.gov/pubmed/36135322
http://dx.doi.org/10.3390/hematolrep14030038

Ejemplares similares