{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T06:35:55Z","timestamp":1762497355214,"version":"build-2065373602"},"reference-count":11,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2019,3,1]],"date-time":"2019-03-01T00:00:00Z","timestamp":1551398400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,3,1]],"date-time":"2019-03-01T00:00:00Z","timestamp":1551398400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,10,12]],"date-time":"2020-10-12T00:00:00Z","timestamp":1602460800000},"content-version":"vor","delay-in-days":591,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["aaceclinicalcasereports.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["AACE Clinical Case Reports"],"published-print":{"date-parts":[[2019,3]]},"DOI":"10.4158\/accr-2018-0291","type":"journal-article","created":{"date-parts":[[2018,11,1]],"date-time":"2018-11-01T14:15:38Z","timestamp":1541081738000},"page":"e154-e158","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["DNA Ligase IV Syndrome: A Rare Cause of Growth Failure &amp; Hypogonadism"],"prefix":"10.1016","volume":"5","author":[{"given":"Jennifer J.","family":"Iyengar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shane C.","family":"Quinonez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nataliya","family":"Razumilava","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Soyster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yolanda R.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark T.","family":"Vander Lugt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Wyckoff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.4158\/ACCR-2018-0291_bb0010","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1016\/j.dnarep.2004.03.025","article-title":"An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome","volume":"3","author":"O'Driscoll","year":"2004","journal-title":"DNA Repair (Amst)"},{"key":"10.4158\/ACCR-2018-0291_bb0015","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1016\/S0960-9822(99)80311-X","article-title":"Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient","volume":"9","author":"Riballo","year":"1999","journal-title":"Curr Biol"},{"key":"10.4158\/ACCR-2018-0291_bb0020","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1002\/humu.22461","article-title":"Extreme growth failure is a common presentation of ligase IV deficiency","volume":"35","author":"Murray","year":"2014","journal-title":"Hum Mutat"},{"key":"10.4158\/ACCR-2018-0291_bb0025","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1016\/S1097-2765(01)00408-7","article-title":"DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency","volume":"8","author":"O'Driscoll","year":"2001","journal-title":"Mol Cell"},{"key":"10.4158\/ACCR-2018-0291_bb0030","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/j.ejmg.2009.05.009","article-title":"Ligase IV syndrome","volume":"52","author":"Chistiakov","year":"2009","journal-title":"Eur J Med Genet"},{"key":"10.4158\/ACCR-2018-0291_bb0035","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1186\/s13023-016-0520-1","article-title":"DNA ligase IV syndrome; a review","volume":"11","author":"Altmann","year":"2016","journal-title":"Orphanet J Rare Dis"},{"key":"10.4158\/ACCR-2018-0291_bb0040","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0098686","article-title":"Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders","volume":"9","author":"Stewart","year":"2014","journal-title":"PLoS One"},{"key":"10.4158\/ACCR-2018-0291_bb0045","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/1750-1172-2-5","article-title":"Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure","volume":"2","author":"Gruhn","year":"2007","journal-title":"Orphanet J Rare Dis"},{"key":"10.4158\/ACCR-2018-0291_bb0050","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1259\/0007-1285-63-752-624","article-title":"An instance of clinical radiation morbidity and cellular radiosensitivity, not associated with ataxia-telangiectasia","volume":"63","author":"Plowman","year":"1990","journal-title":"Br J Radiol"},{"key":"10.4158\/ACCR-2018-0291_bb0055","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1002\/ajmg.a.30869","article-title":"A patient with mutations in DNA ligase IV: clinical features and overlap with Nijmegen breakage syndrome","volume":"137A","author":"Ben-Omran","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.4158\/ACCR-2018-0291_bb0060","doi-asserted-by":"crossref","first-page":"41","DOI":"10.3345\/kjp.2015.58.2.41","article-title":"Growth hormone treatment and risk of malignancy","volume":"58","author":"Chae","year":"2015","journal-title":"Korean J Pediatr"}],"container-title":["AACE Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2376060520305137?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2376060520305137?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T06:31:01Z","timestamp":1762497061000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2376060520305137"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,3]]}},"alternative-id":["S2376060520305137"],"URL":"https:\/\/doi.org\/10.4158\/accr-2018-0291","relation":{},"ISSN":["2376-0605"],"issn-type":[{"type":"print","value":"2376-0605"}],"subject":[],"published":{"date-parts":[[2019,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"DNA Ligase IV Syndrome: A Rare Cause of Growth Failure & Hypogonadism","name":"articletitle","label":"Article Title"},{"value":"AACE Clinical Case Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.4158\/ACCR-2018-0291","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2019 Elsevier Inc.","name":"copyright","label":"Copyright"}]}}