{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,11]],"date-time":"2026-11-11T08:00:11Z","timestamp":1794384011831,"version":"4.9.0"},"publisher-location":"New York, NY","reference-count":19,"publisher":"Springer New York","isbn-type":[{"value":"9781441964472","type":"print"},{"value":"9781441964489","type":"electronic"}],"license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010]]},"DOI":"10.1007\/978-1-4419-6448-9_20","type":"book-chapter","created":{"date-parts":[[2011,1,9]],"date-time":"2011-01-09T01:57:34Z","timestamp":1294538254000},"page":"215-219","source":"Crossref","is-referenced-by-count":10,"title":["Dyskeratosis Congenita"],"prefix":"10.1007","author":[{"given":"Vineeta","family":"Gupta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akash","family":"Kumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"20_CR1","doi-asserted-by":"publisher","first-page":"973","DOI":"10.1016\/S0031-3955(02)00031-7","volume":"49","author":"B.P. Alter","year":"2002","unstructured":"Alter BP. Bone marrow failure syndrome in children. Pediatr Clin North Am 2002; 49:973\u2013988.","journal-title":"Pediatr Clin North Am"},{"key":"20_CR2","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1016\/S0308-2261(21)00042-4","volume":"7","author":"B.P. Alter","year":"1978","unstructured":"Alter BP, Potter NU, Li FP. Classification and etiology of the aplastic anaemias. Clin Haematol 1978; 7:431\u2013465.","journal-title":"Clin Haematol"},{"key":"20_CR3","doi-asserted-by":"crossref","first-page":"15","DOI":"10.5694\/j.1326-5377.1987.tb120119.x","volume":"146","author":"B. Windass","year":"1987","unstructured":"Windass B, Vowels MR, O\u2019Gorman Hughes D. Aplastic anemia in childhood: Prognosis and approach to therapy. Med J Aust 1987; 146:15\u201319.","journal-title":"Med J Aust"},{"key":"20_CR4","doi-asserted-by":"publisher","first-page":"13","DOI":"10.4103\/0019-5359.38917","volume":"62","author":"V. Gupta","year":"2008","unstructured":"Gupta V, Tripathi S, Singh TB et al. A study of bone marrow failure syndrome in children. Indian J Med Sci 2008; 62:13\u201318.","journal-title":"Indian J Med Sci"},{"key":"20_CR5","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1080\/08880010601123240","volume":"24","author":"H. Tamary","year":"2007","unstructured":"Tamary H, Alter BP. Current diagnosis of inherited bone marrow failure syndrome. Pediatr Hematol Oncol 2007; 24:87\u201399.","journal-title":"Pediatr Hematol Oncol"},{"key":"20_CR6","doi-asserted-by":"crossref","unstructured":"Alter BP. Diagnosis, genetics and management of inherited bone marrow failure syndrome. Hematology Am Soc Hematol Educ Program 2007; 29\u201339.","DOI":"10.1182\/asheducation-2007.1.29"},{"key":"20_CR7","first-page":"936","volume":"45","author":"V. Gupta","year":"2008","unstructured":"Gupta V, Bhatia BD. Dyskeratosis congenita Indian Pediatr 2008; 45:936.","journal-title":"Indian Pediatr"},{"key":"20_CR8","volume-title":"Molecular Mechanisms of Fanconi anemia","year":"2006","unstructured":"Ahmad, SI, Kirk. SH. eds. Molecular Mechanisms of Fanconi anemia. Austin\/New York: Landes Bioscience\/ Springer Science\/Business Media Inc., 2006."},{"key":"20_CR9","doi-asserted-by":"publisher","first-page":"551","DOI":"10.1038\/990141","volume":"402","author":"J.R. Mitchell","year":"1999","unstructured":"Mitchell JR Wood E, Collins K. A telomere component is defective in the human disease: Dyskeratosis Congenita. Nature 1999; 402:551\u2013555.","journal-title":"Nature"},{"key":"20_CR10","doi-asserted-by":"publisher","first-page":"2168","DOI":"10.1016\/S0140-6736(02)09087-6","volume":"359","author":"T.J. Vulliamy","year":"2002","unstructured":"Vulliamy TJ, Marrone A, Dokal I et al. Association between aplastic anemia and mutations in telomerase RNA. Lancet 2002; 359:2168\u20132170.","journal-title":"Lancet"},{"key":"20_CR11","doi-asserted-by":"publisher","first-page":"2680","DOI":"10.1182\/blood-2005-07-2622","volume":"107","author":"T.J. Vulliamy","year":"2006","unstructured":"Vulliamy TJ, Marrone A, Knight SW et al. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood 2006; 107:2680\u20132685.","journal-title":"Blood"},{"key":"20_CR12","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1001\/archpedi.1972.02110170079012","volume":"124","author":"J.A. Ortega","year":"1972","unstructured":"Ortega JA, Swanson VL, Landig BH et al. Congenital Dyskeratosis: Zimmer-Engman-Cole syndrome with thymic dysplasia and aplastic anemia. Am J Dis Child 1972; 124:701\u2013704.","journal-title":"Am J Dis Child"},{"key":"20_CR13","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1136\/adc.67.4.524","volume":"67","author":"B.W. Lee","year":"1992","unstructured":"Lee BW, Yap HK, Quah TC et al. T-cell immunodeficiency in Dyskeratosis Congenita. Arch Dis Child 1992; 67:524\u2013526.","journal-title":"Arch Dis Child"},{"key":"20_CR14","doi-asserted-by":"publisher","first-page":"682","DOI":"10.1182\/blood-2004-04-1673","volume":"105","author":"M. Knudson","year":"2005","unstructured":"Knudson M, Kulharni S, Ballas ZK et al. Association of immune abnormalities with telomere shortening in autosomal dominant DC. Blood 2005; 105:682\u2013688.","journal-title":"Blood"},{"key":"20_CR15","doi-asserted-by":"publisher","first-page":"765","DOI":"10.1046\/j.1365-2141.2002.03822.x","volume":"119","author":"F. Cossu","year":"2002","unstructured":"Cossu F, Vulliamy TJ, Marrone A. A novel DKCI mutation, severe combined immunodeficiency (T+B-NK-SCID) and BHT in and infant with Hoyeraal-Hreidarsson syndrome. Br J Haematol 2002; 119:765\u2013768.","journal-title":"Br J Haematol"},{"key":"20_CR16","first-page":"448","volume":"46","author":"V. Gupta","year":"2009","unstructured":"Gupta V, Bhatia BD. Immunological abnormalities in Dyskeratosis congenita. Indian Pediatr 2009; 46:448.","journal-title":"Indian Pediatr"},{"key":"20_CR17","doi-asserted-by":"publisher","first-page":"815","DOI":"10.1111\/j.1365-2141.2007.06718.x","volume":"138","author":"N. Giri","year":"2007","unstructured":"Giri N, Pitel N, Green D. Splenic peliosis and rupture in patients with Dyskeratosis congenita on androgens and G-CSF. Br J Haematol 2007; 138:815\u2013817.","journal-title":"Br J Haematol"},{"key":"20_CR18","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1532\/IJH97.06030","volume":"83","author":"P. Connoli","year":"2006","unstructured":"Connoli P, Basso S, Huanga GC. Intensive immunosuppression therapy for aplastic anemia associated with Dyskeratosis congenita: report of a case. Int J Hematol 2006; 83:275\u2013276.","journal-title":"Int J Hematol"},{"key":"20_CR19","doi-asserted-by":"publisher","first-page":"584","DOI":"10.1111\/j.1399-3046.2007.00721.x","volume":"11","author":"J. de La Fuente","year":"2007","unstructured":"de La Fuente J, Dokal I. Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation. Pediatr Transplant 2007; 11:584\u2013594.","journal-title":"Pediatr Transplant"}],"container-title":["Advances in Experimental Medicine and Biology","Diseases of DNA Repair"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/978-1-4419-6448-9_20","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,17]],"date-time":"2023-02-17T23:51:04Z","timestamp":1676677864000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/978-1-4419-6448-9_20"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010]]},"ISBN":["9781441964472","9781441964489"],"references-count":19,"URL":"https:\/\/doi.org\/10.1007\/978-1-4419-6448-9_20","relation":{"is-part-of":[{"id-type":"doi","id":"https:\/\/doi.org\/10.1007\/978-1-4419-6448-9","asserted-by":"object"}]},"ISSN":["0065-2598"],"issn-type":[{"value":"0065-2598","type":"print"}],"subject":[],"published":{"date-parts":[[2010]]}}}