Article
An acquired BMF with FANCL gene heterozygous mutation: Case report.
Medicine - 16 Jun 2023
Zhang Nan, Wang Xiao, Miao Xiao-Juan, Zhang Xu-Pai, Xia Xin-Yu, Li Li, Sun Hao-Ping
Abstract excerpt
RATIONALE: Bone marrow failure (BMF) includes inherited and acquired BMFs. Acquired BMF can be secondary to various factors, such as autoimmune dysfunction, benzene, drugs, radiation, viral infection and so on. Fanconi anemia (FA) complementation group L (FANCL) is an E3 ubiquitin ligase that participates in the repair of DNA damage. Homozygous or compound heterozygous mutations of FANCL can lead to the onset of...
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