{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T23:10:16Z","timestamp":1768518616619,"version":"3.49.0"},"reference-count":8,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T00:00:00Z","timestamp":1694217600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T00:00:00Z","timestamp":1694217600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ann Hematol"],"published-print":{"date-parts":[[2023,12]]},"DOI":"10.1007\/s00277-023-05424-x","type":"journal-article","created":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T02:01:37Z","timestamp":1694224897000},"page":"3629-3630","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A case report of dyskeratosis congenita caused by a novel TERC mutation"],"prefix":"10.1007","volume":"102","author":[{"given":"Weiru","family":"Liang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Ye","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fengkui","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,9,9]]},"reference":[{"key":"5424_CR1","doi-asserted-by":"publisher","unstructured":"Mender I, Shay JW (2015) Telomere restriction fragment (TRF) analysis. Bio Protoc 5(22). https:\/\/doi.org\/10.21769\/bioprotoc.1658","DOI":"10.21769\/bioprotoc.1658"},{"key":"5424_CR2","doi-asserted-by":"publisher","unstructured":"Mender I, Shay JW (2015) Telomerase repeated amplification protocol (TRAP). Bio Protoc 5(22). https:\/\/doi.org\/10.21769\/bioprotoc.1657","DOI":"10.21769\/bioprotoc.1657"},{"issue":"5","key":"5424_CR3","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"issue":"12","key":"5424_CR4","doi-asserted-by":"publisher","first-page":"753","DOI":"10.1097\/GIM.0b013e3181f415b5","volume":"12","author":"SA Savage","year":"2010","unstructured":"Savage SA, Bertuch AA (2010) The genetics and clinical manifestations of telomere biology disorders. Genet Med 12(12):753\u2013764. https:\/\/doi.org\/10.1097\/GIM.0b013e3181f415b5","journal-title":"Genet Med"},{"key":"5424_CR5","doi-asserted-by":"publisher","first-page":"100064","DOI":"10.1074\/jbc.REV120.014017","volume":"296","author":"S Grill","year":"2021","unstructured":"Grill S, Nandakumar J (2021) Molecular mechanisms of telomere biology disorders. J Biol Chem 296:100064. https:\/\/doi.org\/10.1074\/jbc.REV120.014017","journal-title":"J Biol Chem"},{"issue":"5","key":"5424_CR6","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1038\/ng1346","volume":"36","author":"T Vulliamy","year":"2004","unstructured":"Vulliamy T, Marrone A, Szydlo R, Walne A, Mason PJ, Dokal I (2004) Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet 36(5):447\u2013449. https:\/\/doi.org\/10.1038\/ng1346","journal-title":"Nat Genet"},{"issue":"12","key":"5424_CR7","doi-asserted-by":"publisher","first-page":"1446","DOI":"10.1261\/rna.5152303","volume":"9","author":"CA Theimer","year":"2003","unstructured":"Theimer CA, Finger LD, Feigon J (2003) YNMG tetraloop formation by a dyskeratosis congenita mutation in human telomerase RNA. RNA 9(12):1446\u20131455. https:\/\/doi.org\/10.1261\/rna.5152303","journal-title":"RNA"},{"issue":"7","key":"5424_CR8","doi-asserted-by":"publisher","first-page":"4375","DOI":"10.1074\/jbc.M109.088575","volume":"285","author":"AR Robart","year":"2010","unstructured":"Robart AR, Collins K (2010) Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants. J Biol Chem 285(7):4375\u20134386. https:\/\/doi.org\/10.1074\/jbc.M109.088575","journal-title":"J Biol Chem"}],"container-title":["Annals of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00277-023-05424-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00277-023-05424-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00277-023-05424-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,11]],"date-time":"2023-11-11T05:04:18Z","timestamp":1699679058000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00277-023-05424-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,9]]},"references-count":8,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["5424"],"URL":"https:\/\/doi.org\/10.1007\/s00277-023-05424-x","relation":{},"ISSN":["0939-5555","1432-0584"],"issn-type":[{"value":"0939-5555","type":"print"},{"value":"1432-0584","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,9]]},"assertion":[{"value":"20 December 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 February 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 September 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors state that all procedures followed are in accordance with the 1964 Helsinki Declaration and its later amendments. Informed consent was obtained from the young adult patient and his father for their genetic investigation and inclusion in the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}