{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T15:46:19Z","timestamp":1772639179422,"version":"3.50.1"},"reference-count":28,"publisher":"Informa UK Limited","license":[{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CCID"],"DOI":"10.2147\/ccid.s371794","type":"journal-article","created":{"date-parts":[[2022,9,9]],"date-time":"2022-09-09T00:10:13Z","timestamp":1662682213000},"page":"1837-1845","source":"Crossref","is-referenced-by-count":4,"title":["A Novel Variant and a Missense Variant Identified in the DKC1 Gene in Three Chinese Familieswith Dyskeratosis Congenita"],"prefix":"10.2147","volume":"Volume 15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9144-0121","authenticated-orcid":true,"given":"Chunyu","family":"Yuan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongmei","family":"Deng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianqiu","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simeng","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qihong","family":"Qian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6761-1584","authenticated-orcid":true,"given":"Shengru","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yujiang","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"301","published-online":{"date-parts":[[2022,9]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1038\/ejhg.2014.170","volume":"23","author":"Dokal","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"943","DOI":"10.1111\/ddg.14268","volume":"18","author":"AlSabbagh","year":"2020","journal-title":"J Dtsch Dermatol Ges"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1007\/s12185-018-02582-x","volume":"109","author":"Li","year":"2019","journal-title":"Int J Hematol"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"1037","DOI":"10.1080\/17474086.2019.1662720","volume":"12","author":"Niewisch","year":"2019","journal-title":"Expert Rev Hematol"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"520","DOI":"10.1002\/pbc.22061","volume":"53","author":"Savage","year":"2009","journal-title":"Pediatr Blood Cancer"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"470","DOI":"10.1111\/j.0022-202X.2004.23228.x","volume":"123","author":"Ding","year":"2004","journal-title":"J Invest Dermatol"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"1460","DOI":"10.1056\/NEJMicm1613081","volume":"376","author":"Kelmenson","year":"2017","journal-title":"N Engl J Med"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"1668","DOI":"10.1016\/j.mayocp.2019.04.032","volume":"94","author":"Stoopler","year":"2019","journal-title":"Mayo Clin Proc"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"1257","DOI":"10.2169\/internalmedicine.5143-20","volume":"60","author":"Otoshi","year":"2021","journal-title":"Intern Med"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"157","DOI":"10.2147\/JBM.S47437","volume":"5","author":"Fern\u00e1ndez Garc\u00eda","year":"2014","journal-title":"J Blood Med"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"e239","DOI":"10.1016\/j.oooo.2017.08.001","volume":"124","author":"Bongiorno","year":"2017","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"34894211047470","DOI":"10.1177\/00034894211047470","author":"Liu","year":"2021","journal-title":"Ann Otol Rhinol Laryngol"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"30","DOI":"10.3324\/haematol.2017.178111","volume":"103","author":"Alter","year":"2018","journal-title":"Haematologica"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"804","DOI":"10.1016\/j.jaad.2017.10.017","volume":"78","author":"Ward","year":"2018","journal-title":"J Am Acad Dermatol"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"480","DOI":"10.1182\/asheducation-2011.1.480","volume":"2011","author":"Okal","year":"2011","journal-title":"Hematology Am Soc Hematol Educ Program"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1016\/j.jaci.2012.11.052","volume":"132","author":"Allenspach","year":"2013","journal-title":"J Allergy Clin Immunol"},{"key":"ref17","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1176\/ajp.133.1.32","volume":"133","author":"Gardos","year":"1976","journal-title":"Am J Psychiatry"},{"key":"ref18","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1016\/j.humpath.2014.10.003","volume":"46","author":"Dvorak","year":"2015","journal-title":"Hum Pathol"},{"key":"ref19","doi-asserted-by":"publisher","first-page":"7301","DOI":"10.4081\/pr.2017.7301","volume":"9","author":"Olivieri","year":"2017","journal-title":"Pediatr Rep"},{"key":"ref20","doi-asserted-by":"publisher","first-page":"353","DOI":"10.3324\/haematol.2011.055269","volume":"97","author":"Alter","year":"2012","journal-title":"Haematologica"},{"key":"ref21","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1002\/ajh.24545","volume":"91","author":"Xu","year":"2016","journal-title":"Am J Hematol"},{"key":"ref22","doi-asserted-by":"publisher","first-page":"1441","DOI":"10.1261\/rna.078953.121","volume":"27","author":"Garus","year":"2021","journal-title":"RNA"},{"key":"ref23","doi-asserted-by":"publisher","first-page":"874","DOI":"10.1021\/pr500956k","volume":"14","author":"Cerrudo","year":"2015","journal-title":"J Proteome Res"},{"key":"ref24","doi-asserted-by":"publisher","first-page":"426","DOI":"10.4103\/ijd.IJD_716_18","volume":"65","author":"Zhao","year":"2020","journal-title":"Indian J Dermatol"},{"key":"ref25","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1186\/s12881-018-0584-y","volume":"19","author":"Ratnasamy","year":"2018","journal-title":"BMC Med Genet"},{"key":"ref26","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1007\/s000180300042","volume":"60","author":"Marrone","year":"2003","journal-title":"Cell Mol Life Sci"},{"key":"ref27","doi-asserted-by":"publisher","first-page":"2680","DOI":"10.1182\/blood-2005-07-2622","volume":"107","author":"Vulliamy","year":"2006","journal-title":"Blood"},{"key":"ref28","doi-asserted-by":"publisher","first-page":"e0127414","DOI":"10.1371\/journal.pone.0127414","volume":"10","author":"Gu","year":"2015","journal-title":"PLoS One"}],"container-title":["Clinical, Cosmetic and Investigational Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.dovepress.com\/getfile.php?fileID=83766","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.dovepress.com\/getfile.php?fileID=83766","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,9]],"date-time":"2022-09-09T00:10:15Z","timestamp":1662682215000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.dovepress.com\/a-novel-variant-and-a-missense-variant-identified-in-the-dkc1-gene-in--peer-reviewed-fulltext-article-CCID"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9]]},"references-count":28,"URL":"https:\/\/doi.org\/10.2147\/ccid.s371794","relation":{},"ISSN":["1178-7015"],"issn-type":[{"value":"1178-7015","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9]]}}}