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Clinical manifestations of telomere biology disorders in adults

8 Dec 2023

Abstract excerpt

Telomere biology disorders (TBDs) are a spectrum of inherited bone marrow failure syndromes caused by impaired telomere function due to pathogenic germline variants in genes involved in telomere maintenance. TBDs can affect many organ systems and are often thought of as diseases of childhood. However, TBDs may present in mid- or even late adulthood with features similar to but not always the same as the...

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PMID: 38066848
DOI: 10.1182/hematology.2023000490

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