{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T10:34:55Z","timestamp":1766399695446,"version":"3.48.0"},"reference-count":21,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T00:00:00Z","timestamp":1764806400000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Wolcott\u2013Rallison syndrome (WRS) is a rare genetic autosomal recessive inherited disorder with three main clinical features: neonatal diabetes mellitus (NDM), bone dysplasia, and acute liver dysfunction. The aim of the study is to report a rare case of WRS with genetic analysis. We report a 1\u2010year\u2010old male patient with consanguineous parents who was referred due to weakness and vomiting at 3\u2009months old and was admitted due to diabetic ketoacidosis with severe acidosis and hyperglycemia without any other skeletal, hepatic, or renal presentations and a novel homozygous c.2825A&gt;C (p.Asn942Thr) variant in exon 14 of the EIF2AK3 gene on chromosome 2. Genetic testing is recommended for distinguishing WRS from other causes of neonatal insulin\u2010dependent diabetes, and early diagnosis in order to develop timely and appropriate treatment, especially rapid detection of the acute liver failure as the most life\u2010threatening complication.<\/jats:p>","DOI":"10.1002\/ccr3.71623","type":"journal-article","created":{"date-parts":[[2025,12,5]],"date-time":"2025-12-05T03:56:09Z","timestamp":1764906969000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel\n                    <scp>EIF2AK3<\/scp>\n                    Variant Causing Wolcott\u2013Rallison Syndrome With Early Neonatal Diabetic Ketoacidosis as Initial Presentation: A Case Report"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3248-7311","authenticated-orcid":false,"given":"Shahab","family":"Noorian","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology, School of Medicine Alborz University of Medical Sciences  Karaj Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatemeh","family":"Aghamahdi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, School of Medicine Alborz University of Medical Sciences  Karaj Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahnaz Seifi","family":"Alan","sequence":"additional","affiliation":[{"name":"Cardiovascular Research Center Alborz University of Medical Sciences  Karaj Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saeed","family":"Nikkhah","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine Alborz University of Medical Sciences  Karaj Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-6152-8617","authenticated-orcid":false,"given":"Hedieh","family":"Soltani","sequence":"additional","affiliation":[{"name":"Student Research Committee, School of Medicine Alborz University of Medical Sciences  Karaj Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,4]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-1137"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-29"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.5114\/pedm.2022.118325"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1089\/ars.2007.1764"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2007-0015"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty897"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkab266"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.08.016"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12859-015-0554-8"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg509"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.01.004"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu703"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.12.015"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.53.7.1876"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00632.x"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000369804"},{"key":"e_1_2_13_18_1","first-page":"320","article-title":"Wolcott\u2010Rallison Syndrome: A Case Report of a Novel Mutation","volume":"2","author":"Arshad K.","year":"2024","journal-title":"JCPSP: Journal of the College of Physicians and Surgeons Pakistan"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2021-242376"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/liv.15834"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.3065"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13300-025-01714-x"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.71623","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T10:31:47Z","timestamp":1766399507000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.71623"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":21,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10.1002\/ccr3.71623"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.71623","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"type":"print","value":"2050-0904"},{"type":"electronic","value":"2050-0904"}],"subject":[],"published":{"date-parts":[[2025,12]]},"assertion":[{"value":"2025-05-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-04","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e71623"}}