Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohort

Abstract excerpt

ABSTRACT: Pathogenic germ line variants affecting proper telomere maintenance result in premature telomere shortening and cause telomere biology disorders (TBDs). Although classical dyskeratosis congenita in children is rather well defined, late-onset ("cryptic") TBDs remain underrecognized, resulting in underdiagnosis and inadequate treatment in affected adults. Here, we present a series of adult TBD cases...

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