{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T10:33:24Z","timestamp":1770978804436,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,10,8]],"date-time":"2015-10-08T00:00:00Z","timestamp":1444262400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2015,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hoyeraal\u2013Hreidarsson syndrome is a rare telomere biology disorder that is recognized as a severe variant of dyskeratosis congenita. We present a Libyan boy with hematologic and neurologic abnormalities with typical dermatologic manifestations of dyskeratosis congenita. Death usually occurs before the age of 4 years as a result of pancytopenia or malignant transformation of mucocutaneous lesions. The boy presented survived longer than 5 years. Early recognition and appropriate genetic counseling are crucial because of the high mortality of this genetic disorder.<\/jats:p>","DOI":"10.1111\/pde.12693","type":"journal-article","created":{"date-parts":[[2015,10,8]],"date-time":"2015-10-08T09:10:50Z","timestamp":1444295450000},"source":"Crossref","is-referenced-by-count":5,"title":["Hoyeraal\u2013Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype"],"prefix":"10.1111","volume":"32","author":[{"given":"\u00d6zg\u00fcr","family":"Bakar","sequence":"first","affiliation":[{"name":"Department of Dermatology School of Medicine Acibadem University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ug\u02c7ur","family":"I\u015fik","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology School of Medicine Acibadem University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cengiz","family":"Canpolat","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology and Oncology School of Medicine Acibadem University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasemin","family":"Alanay","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics Department of Pediatrics School of Medicine Acibadem University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,10,8]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"80","article-title":"What are the essential symptoms in the Hoyeraal\u2010Hreidarsson syndrome?","volume":"156","author":"Ohga S","year":"1997","journal-title":"Eur J Pediatr"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-12-062851"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01957367"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1586\/ehm.13.23"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1999.01690.x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2000-7531"},{"key":"e_1_2_5_8_1","first-page":"ECR38","article-title":"The longest surviving child with Hoyeraal\u2010Hreidarsson syndrome","volume":"89","author":"Ozdemir MA","year":"2004","journal-title":"Haematologica"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-12-192880"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa066157"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.25.13782"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1300600110"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.248567.114"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2013.05.021"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.12693","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.12693","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T15:08:07Z","timestamp":1695568087000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.12693"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10,8]]},"references-count":13,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2015,11]]}},"alternative-id":["10.1111\/pde.12693"],"URL":"https:\/\/doi.org\/10.1111\/pde.12693","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,10,8]]}}}