Congenital Neutropenia with Specific Granulocyte Deficiency Caused by Novel Double Heterozygous <i>SMARCD2</i> Mutations
<i>SMARCD2</i> (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 2) is critical for myelopoiesis. Recently, bi-allelic <i>SMARCD2</i> mutations have been reported in five children, causing autosomal recessive congenital neutropen...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2022-09-01
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Series: | Hematology Reports |
Subjects: | |
Online Access: | https://www.mdpi.com/2038-8330/14/3/38 |