{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T02:11:12Z","timestamp":1768529472324,"version":"3.49.0"},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2008,9,18]],"date-time":"2008-09-18T00:00:00Z","timestamp":1221696000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2009,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Dyskeratosis congenita (DC) is a rare congenital syndrome characterized by the triad of reticular skin pigmentation, nail dystrophy and mucosal leukoplakia, and the predisposition to bone marrow failure and malignancy. DC is genetically heterogeneous and X\u2010linked and autosomal forms of the disease exist. Here, we report the clinical description and mutation analysis of a Russian family with X\u2010linked DC. A novel mutation in DKC1 raised de novo in the maternal grandmother's gamete was found; this mutation is a 2 bp inversion in exon 3: NM_001363:c.166_167invCT (Leu56Ser). Pediatr Blood Cancer 2009;52:135\u2013137. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/pbc.21733","type":"journal-article","created":{"date-parts":[[2008,9,18]],"date-time":"2008-09-18T21:07:38Z","timestamp":1221772058000},"page":"135-137","source":"Crossref","is-referenced-by-count":4,"title":["Identification of a novel mutation in DKC1 in dyskeratosis congenita"],"prefix":"10.1002","volume":"52","author":[{"given":"Maria","family":"Kurnikova","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irina","family":"Shagina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lilia","family":"Khachatryan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga","family":"Schagina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mikchail","family":"Maschan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dmitriy","family":"Shagin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,9,18]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1998.01103.x"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1086\/302446"},{"key":"e_1_2_5_4_2","doi-asserted-by":"crossref","first-page":"2766","DOI":"10.1073\/pnas.86.8.2766","article-title":"Detection of polymorphisms of human DNA by gel electrophoresis as single\u2010strand conformation polymorphisms","volume":"86","author":"Orita M","journal-title":"Proc Acad Sci USA"},{"key":"e_1_2_5_5_2","first-page":"831","article-title":"New efficient extragenic microsatellite markers for hemophilia A carrier state diagnostics","volume":"43","author":"Surin VL","year":"2007","journal-title":"Genetika"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1053\/j.seminhematol.2006.04.001"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.2174\/1566524053586581"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm111"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.10.004"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-02-075598"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-10-120204"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.21733","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.21733","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.21733","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T17:58:19Z","timestamp":1699898299000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.21733"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9,18]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,1]]}},"alternative-id":["10.1002\/pbc.21733"],"URL":"https:\/\/doi.org\/10.1002\/pbc.21733","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,9,18]]}}}