Associated Papers
Novel Nonsense Mutation in SMARCD2 Gene Results in Dysplasia of All Myeloid Cell Lines.
Brouwer MAE et al.
Ejhaem, 2025
Congenital Neutropenia with Specific Granulocyte Deficiency Caused by Novel Double Heterozygous SMARCD2 Mutations.
Ibrahim A et al.
Hematology Reports, 2022
Specific Granule Deficiency Due To Novel Homozygote SMARCD2 Variant.
Kihtir Z et al.
Pediatric Allergy, Immunology, and Pulmonology, 2022
Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2.
Schim van der Loeff I et al.
The Journal of Allergy and Clinical Immunology, 2021
Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis.
Yucel E et al.
Journal of Clinical Immunology, 2021
Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes.
Witzel M et al.
Nature Genetics, 2017
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