{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T16:26:49Z","timestamp":1792772809559,"version":"4.5.0"},"reference-count":13,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,9,24]],"date-time":"2024-09-24T00:00:00Z","timestamp":1727136000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2024,9,24]],"date-time":"2024-09-24T00:00:00Z","timestamp":1727136000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    RECQL4\u2010related syndromes are a group of rare cancer\u2010predisposition syndromes caused by biallelic pathogenic\/likely pathogenic variants (PV\/LPV) in the DNA helicase gene,\n                    <jats:italic>RECQL4<\/jats:italic>\n                    . Genetic testing is typically prompted by the presence of one or more hallmark clinical features, and in the absence of such manifestations, diagnosis may be delayed or even missed. We describe five patients with biallelic germline mutations in\n                    <jats:italic>RECQL4<\/jats:italic>\n                    who presented atypically, without the hallmark clinical manifestations of this syndrome. Three of these patients developed osteosarcoma, underscoring the importance of recognizing atypical presentations of Rothmund\u2013Thomson syndrome (RTS) to allow for early awareness and surveillance for cancer.\n                  <\/jats:p>","DOI":"10.1002\/pbc.31315","type":"journal-article","created":{"date-parts":[[2024,9,24]],"date-time":"2024-09-24T09:15:33Z","timestamp":1727169333000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Atypical presentations of RECQL4\u2010related syndromes"],"prefix":"10.1002","volume":"71","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0692-8921","authenticated-orcid":false,"given":"Liron D.","family":"Grossmann","sequence":"first","affiliation":[{"name":"Division of Hematology\u2010Oncology Edmond and Lily Safra Children's Hospital Sheba Medical Center Tel\u2010Hashomer Israel"},{"name":"Division of Oncology and Center for Childhood Cancer Research Children's Hospital of Philadelphia Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2262-4191","authenticated-orcid":false,"given":"Sarah","family":"Baldino","sequence":"additional","affiliation":[{"name":"Division of Oncology and Center for Childhood Cancer Research Children's Hospital of Philadelphia Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"Zelley","sequence":"additional","affiliation":[{"name":"Division of Oncology and Center for Childhood Cancer Research Children's Hospital of Philadelphia Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Balis","sequence":"additional","affiliation":[{"name":"Division of Oncology and Center for Childhood Cancer Research Children's Hospital of Philadelphia Philadelphia Pennsylvania USA"},{"name":"Division of Oncology Department of Pediatrics Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5729-8819","authenticated-orcid":false,"given":"Rochelle","family":"Bagatell","sequence":"additional","affiliation":[{"name":"Division of Oncology and Center for Childhood Cancer Research Children's Hospital of Philadelphia Philadelphia Pennsylvania USA"},{"name":"Division of Oncology Department of Pediatrics Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer M.","family":"Kalish","sequence":"additional","affiliation":[{"name":"Division of Oncology and Center for Childhood Cancer Research Children's Hospital of Philadelphia Philadelphia Pennsylvania USA"},{"name":"Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA"},{"name":"Department of Human Genetics Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne P.","family":"MacFarland","sequence":"additional","affiliation":[{"name":"Division of Oncology and Center for Childhood Cancer Research Children's Hospital of Philadelphia Philadelphia Pennsylvania USA"},{"name":"Division of Oncology Department of Pediatrics Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,9,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2015.10080"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2015.5699"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1508054"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000214457.58378.1a"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.154"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/95.9.669"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431\u2010007\u20100447\u20106"},{"key":"e_1_2_6_9_1","first-page":"e6","volume-title":"Atypical Presentation of Rothmund\u2013Thomson Syndrome with Caf\u00e9 Au Lait Patches","author":"Verykiou S","year":"2014"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096\u20109926(199907)60:1<37::Aid\u2010tera10>3.0.Co;2\u2010r"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330312"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.209"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms19041103"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/s1470\u20102045(16)30249\u20102"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.31315","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pbc.31315","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.31315","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T13:46:15Z","timestamp":1792763175000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.31315"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,24]]},"references-count":13,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1002\/pbc.31315"],"URL":"https:\/\/doi.org\/10.1002\/pbc.31315","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,24]]},"assertion":[{"value":"2023-12-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-24","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e31315"}}