2023
DOI: 10.1097/md.0000000000034036
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An acquired BMF with FANCL gene heterozygous mutation: Case report

Abstract: 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 FA, which is one of the most common inherited BMFs.Patient concerns and Diagnoses: Here, we report … Show more

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