{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,30]],"date-time":"2026-08-30T09:26:27Z","timestamp":1788081987551,"version":"build-2784847793"},"reference-count":91,"publisher":"Oxford University Press (OUP)","issue":"1190","license":[{"start":{"date-parts":[[2024,8,29]],"date-time":"2024-08-29T00:00:00Z","timestamp":1724889600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,11,22]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Defective telomerase function or telomere maintenance causes genomic instability. Alterations in telomere length and\/or attrition are the primary features of rare diseases known as telomere biology disorders or telomeropathies. Recent advances in the molecular basis of these disorders and cutting-edge methods assessing telomere length have increased our understanding of this topic. Multiorgan manifestations and different phenotypes have been reported even in carriers within the same family. In this context, apart from dyskeratosis congenita, disorders formerly considered idiopathic (i.e. pulmonary fibrosis, liver cirrhosis) frequently correlate with underlying defective telomere maintenance mechanisms. Moreover, these patients are prone to developing specific cancer types and exhibit exceptional sensitivity and toxicity in standard chemotherapy regimens. The current review describes the diverse spectrum of clinical manifestations of telomere biology disorders in pediatric and adult patients, their correlation with pathogenic variants, and considerations during their management to increase awareness and improve a multidisciplinary approach.<\/jats:p>","DOI":"10.1093\/postmj\/qgae102","type":"journal-article","created":{"date-parts":[[2024,8,28]],"date-time":"2024-08-28T20:42:08Z","timestamp":1724877728000},"page":"879-889","source":"Crossref","is-referenced-by-count":10,"title":["Telomere biology disorders: from dyskeratosis congenita and beyond"],"prefix":"10.1093","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6912-0444","authenticated-orcid":false,"given":"Kleoniki","family":"Roka","sequence":"first","affiliation":[{"name":"Division of Pediatric Hematology-Oncology , First Department of Pediatrics, , Aghia Sophia Children\u2019s Hospital, Full Member of ERN GENTURIS and ERN EuroBloodnet, 8 Levadias Street, Goudi, Athens, 11527,","place":["Greece"]},{"name":"National and Kapodistrian University of Athens , First Department of Pediatrics, , Aghia Sophia Children\u2019s Hospital, Full Member of ERN GENTURIS and ERN EuroBloodnet, 8 Levadias Street, Goudi, Athens, 11527,","place":["Greece"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Solomou","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University of Patras Medical School , Rion, 26500,","place":["Greece"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonis","family":"Kattamis","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology-Oncology , First Department of Pediatrics, , Aghia Sophia Children\u2019s Hospital, Full Member of ERN GENTURIS and ERN EuroBloodnet, 8 Levadias Street, Goudi, Athens, 11527,","place":["Greece"]},{"name":"National and Kapodistrian University of Athens , First Department of Pediatrics, , Aghia Sophia Children\u2019s Hospital, Full Member of ERN GENTURIS and ERN EuroBloodnet, 8 Levadias Street, Goudi, Athens, 11527,","place":["Greece"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eftychia","family":"Stiakaki","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology-Oncology & Autologous Hematopoietic Stem Cell Transplantation Unit , University Hospital of Heraklion & Laboratory of Blood Diseases and Childhood Cancer Biology, School of Medicine, , Voutes, Heraklion, Crete, 71500,","place":["Greece"]},{"name":"University of Crete , University Hospital of Heraklion & Laboratory of Blood Diseases and Childhood Cancer Biology, School of Medicine, , Voutes, Heraklion, Crete, 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