{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T01:52:22Z","timestamp":1788313942848,"version":"build-2803163510"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,2,12]],"date-time":"2019-02-12T00:00:00Z","timestamp":1549929600000},"content-version":"vor","delay-in-days":42,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:p>\n                    Werner\u2019s syndrome (WS) is an autosomal recessive genetic disease, which is mainly characterized by scleroderma\u2010like skin changes, juvenile cataracts, short stature, and signs of premature aging. We report a case of a 48\u2010year\u2010old male patient, who presents with cardinal signs of WS including high\u2010pitched voice, sclerotic skin lesions mainly on feet, premature greying of scalp hair, bilateral cataracts, and \u201cbird\u2010like\u201d facial appearance. In addition, the patient presents other clinical characteristics observed in patients with WS such as short stature, type 2 diabetes mellitus, hypogonadism, parental consanguinity, and a history of a sibling with similar clinical characteristics.\n                    <jats:italic>WRN<\/jats:italic>\n                    gene sequencing identified the homozygous pathogenic variant NM_00553.4: c.2581C&gt;T (NP_000544.2: pGln861Ter). This is the first case of WS reported in the Colombian population. We report this case to avoid misdiagnosis of this infrequent condition and allow timely identification of potential complications associated with premature aging, especially malignancies, cardiovascular and metabolic diseases.\n                  <\/jats:p>","DOI":"10.1155\/2019\/8538325","type":"journal-article","created":{"date-parts":[[2019,2,12]],"date-time":"2019-02-12T18:33:08Z","timestamp":1549996388000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Werner\u2019s Syndrome: Understanding the Phenotype of Premature Aging\u2014First Case Described in Colombia"],"prefix":"10.1155","volume":"2019","author":[{"given":"A.","family":"Rinc\u00f3n","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Mora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Suarez-Obando","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9784-188X","authenticated-orcid":false,"given":"J. 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V.","year":"2007","journal-title":"The European Journal of Dermatology"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.arr.2016.03.002"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.2147\/CIA.S1957"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1474-9728.2003.00052.x"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1159\/000484424"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.272.5259.258"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23128"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-010-0832-5"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0142(19990315)85:6<1345::AID-CNCR18>3.0.CO;2-#"},{"key":"e_1_2_5_15_2","first-page":"3684","article-title":"The spectrum of WRN mutations in werner syndrome patients","volume":"46","author":"Huang S.","year":"2007","journal-title":"Human Mutation"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0059709"},{"key":"e_1_2_5_17_2","first-page":"239","article-title":"Excess of rare cancers in Werner syndrome (adult progeria)","volume":"5","author":"Goto M.","year":"1996","journal-title":"Cancer Epidemiology, Biomarkers and Prevention"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2019\/8538325.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2019\/8538325.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/2019\/8538325","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T00:18:55Z","timestamp":1762474735000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/2019\/8538325"}},"subtitle":[],"editor":[{"given":"Christos","family":"Yapijakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2019,1]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,1]]}},"alternative-id":["10.1155\/2019\/8538325"],"URL":"https:\/\/doi.org\/10.1155\/2019\/8538325","archive":["Portico"],"relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1]]},"assertion":[{"value":"2018-08-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-12-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-02-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"8538325"}}