Article
From Severe Aplastic Anemia with TERT Variant to Wilson Disease - Associations or Not
2025-04-02
Abstract excerpt
<title>Abstract</title> <p>Severe aplastic anemia is a life-threatening ineffective hematopoiesis, arising from inherited or acquired traits. Wilson disease is a rare congenital metabolic disorder with copper accumulation. Here we report a rare case of a 15 year-old boy, who presented with bone marrow failure. Whole exome sequencing revealed several gene mutations in ATP7B and TERT. Based on the phenotypes, telom...
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Identifiers and source
- Literature Corpus work
- cce9e265-c03a-52d6-a25e-c80f357b5bd9
- DOI
- 10.21203/rs.3.rs-6226734/v1