Article
Solid malignancies in telomere biology disorders.
Seminars in hematology - 1 Dec 2025
Savage Sharon A
Abstract excerpt
Telomere biology disorders (TBDs) are caused by pathogenic germline variants in genes essential for telomere maintenance and function, including at least 17 different genes with X-linked recessive (XLR), autosomal dominant (AD) and/or autosomal recessive (AR) inheritance as well as de novo occurrence. Individuals with TBDs have short and/or dysfunctional telomeres and high rates of bone marrow failure, pulmonary...
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