A novel compound heterozygous mutation of MYSM1 gene in a patient with bone marrow failure syndrome 4

Br J Biomed Sci. 2021 Oct;78(4):239-243. doi: 10.1080/09674845.2021.1894706. Epub 2021 Mar 19.

Authors

X Zhan¹, A Zhao¹, B Wu¹, Y Yang¹, L Wan¹, P Tan¹, J Huang¹, Y Lu¹

Affiliation

¹ Department of Childhood Hematology, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

PMID: 33618624
DOI: 10.1080/09674845.2021.1894706

No abstract available

Keywords: Myb-like swirm and MPN domains 1 (MYSM1); bone marrow failure syndrome; compound heterozygous mutation; immunodeficiency.

Publication types

Case Reports

MeSH terms

Bone Marrow Failure Disorders
DNA-Binding Proteins* / genetics
Humans
Mutation
Trans-Activators* / genetics
Ubiquitin-Specific Proteases / genetics

Substances

DNA-Binding Proteins
MYSM1 protein, human
Trans-Activators
Ubiquitin-Specific Proteases