Translated title of the contribution: Telomere biology disorders

Anna Byrjalsen, Anette Bygum, Charlotte Kvist Lautrup, Anja Lisbeth Frederiksen, Annette Fialla, Klas Kræsten Raaschou Jensen, Elisabeth Bendstrup, Tania Nicole Masmas, Mette Klarskov, Anne Marie Jelsig

Research output: Contribution to journalJournal articleResearchpeer-review


The end of the chromosomes consists of DNA referred to as telomeres. The telomeres protect chromosomal DNA against shortening when cells divide. Patients with telomere biology disorders carry pathogenic germline variants in a gene involved in telomere function. New technologic advances have enabled us to identify more patients with telomere biology disorders, which in turn have increased our understanding of the phenotypic spectrum. The latter have proved wider than previously thought, and now we know that e.g. patients with isolated lung fibrosis can have an underlying telomere biology disorder.
Translated title of the contributionTelomere biology disorders
Original languageDanish
Article numberV03220220
JournalUgeskrift for Læger
Issue number1
Publication statusPublished - Jan 2023


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