{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T02:25:43Z","timestamp":1771467943275,"version":"3.50.1"},"reference-count":0,"publisher":"Walter de Gruyter GmbH","issue":"9-10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,9,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Wolcott-Rallison syndrome (WRS) is a very rare genetic disorder, which is transmitted by autosomal recessive inheritance and results from mutations in the gene encoding the eukaryotic initiation factor 2-\u03b1 kinase-3 (<jats:italic>EIF2AK3<\/jats:italic>). The cardinal features of the syndrome include early-onset insulin-dependent diabetes mellitus, multiple epiphyseal dysplasia, and growth retardation. We present the case of a 13-year-old Greek boy with a known history of infancy-onset diabetes mellitus and was found to have WRS at the age of 4 years. He presented with acute liver and renal insufficiency in addition to skeletal dysplasia and neurodevelopmental retardation. The clinical suspicion of WRS was confirmed by molecular analysis of the <jats:italic>EIF2AK3<\/jats:italic> gene. The patient was found to be a compound heterozygote with two different novel mutations (c.2776C&gt;T, p.R902X and c.3038A&gt;G, p.Y989C). The current patient is one of the longer survivors.<\/jats:p>","DOI":"10.1515\/jpem-2013-0469","type":"journal-article","created":{"date-parts":[[2014,5,23]],"date-time":"2014-05-23T15:07:46Z","timestamp":1400857666000},"page":"967-970","source":"Crossref","is-referenced-by-count":4,"title":["Early-onset diabetes mellitus and neurodevelopmental retardation: the first Greek case of Wolcott-Rallison syndrome"],"prefix":"10.1515","volume":"27","author":[{"given":"Panagiota","family":"Triantafyllou","sequence":"first","affiliation":[{"name":"First Department of Pediatrics, Aristotle University of Thessaloniki, Hippokratio General Hospital, Thessaloniki, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Euthymia","family":"Vargiami","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics, Aristotle University of Thessaloniki, Hippokratio General Hospital, Thessaloniki, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isidora","family":"Vagianou","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics, Aristotle University of Thessaloniki, Hippokratio General Hospital, Thessaloniki, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Badouraki","sequence":"additional","affiliation":[{"name":"Pediatric Radiology Unit, Hippokratio General Hospital, Thessaloniki, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecile","family":"Julier","sequence":"additional","affiliation":[{"name":"Inserm UMR-S 958, Faculte de Medecine Dennis-Diderot, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dimitrios I.","family":"Zafeiriou","sequence":"additional","affiliation":[{"name":"Professor in Child Neurology and Developmental Pediatrics, First Department of Pediatrics, Aristotle University of Thessaloniki, Egnatia Street 106, 54622 Thessaloniki, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2014,5,23]]},"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2013-0469\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2013-0469\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,31]],"date-time":"2022-05-31T05:14:45Z","timestamp":1653974085000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2013-0469\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,23]]},"references-count":0,"journal-issue":{"issue":"9-10","published-online":{"date-parts":[[2014,5,23]]},"published-print":{"date-parts":[[2014,9,20]]}},"alternative-id":["10.1515\/jpem-2013-0469"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2013-0469","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2014,5,23]]}}}