Monday, December 7, 2020

Defective neutrophil development and specific granule deficiency caused by a homozygous splice site mutation in SMARCD2

pa.ythelady61 shared this article with you from Inoreader
Capsule summary: Here we provide the second report of human SMARCD2 deficiency leading to an immunodeficiency syndrome with impaired neutrophil development and function.
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