{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T10:08:27Z","timestamp":1777370907502,"version":"3.51.4"},"reference-count":14,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2021,9]]},"DOI":"10.1016\/j.ejmg.2021.104285","type":"journal-article","created":{"date-parts":[[2021,7,3]],"date-time":"2021-07-03T20:03:27Z","timestamp":1625342607000},"page":"104285","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case"],"prefix":"10.1016","volume":"64","author":[{"given":"Khouloud","family":"Rjiba","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Najla","family":"Soyah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Molka","family":"Kammoun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imen","family":"Hadj Hmida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Saad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth","family":"Mcelreavey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soumaya","family":"Mougou-Zerelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2021.104285_bib1","first-page":"1","article-title":"A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern , epilepsy , and permanent neonatal diabetes syndrome ( MEDS )","author":"Abdel-Salam","year":"2012","journal-title":"Am. J. Med. Genet."},{"issue":"20","key":"10.1016\/j.ejmg.2021.104285_bib2","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.0711151105","article-title":"From first principles","volume":"105","author":"Bernsel","year":"2008","journal-title":"Proc. Natl. Acad. Sci. Unit. States Am."},{"issue":"9","key":"10.1016\/j.ejmg.2021.104285_bib3","doi-asserted-by":"crossref","first-page":"1024","DOI":"10.1016\/j.molmet.2017.06.001","article-title":"Endoplasmic reticulum stress and eIF2\u03b1 phosphorylation: the Achilles heel of pancreatic \u03b2 cells","volume":"6","author":"Cnop","year":"2017","journal-title":"Mol Metab [Internet]"},{"issue":"October","key":"10.1016\/j.ejmg.2021.104285_bib4","first-page":"602","article-title":"Genetic characteristics , clinical spectrum , and incidence of neonatal diabetes in the emirate of AbuDhabi , United Arab Emirates","volume":"609","author":"Deeb","year":"2015","journal-title":"Am. J. Med. Genet. Part A 170A602\u2013"},{"issue":"6","key":"10.1016\/j.ejmg.2021.104285_bib5","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1530\/EJE-14-0852","article-title":"Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations","volume":"172","author":"Demirbilek","year":"2015","journal-title":"Eur. J. Endocrinol."},{"issue":"6519","key":"10.1016\/j.ejmg.2021.104285_bib6","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1126\/science.abb5390","article-title":"A human tissue screen identifies a regulator of ER secretion as a brain-size determinant","volume":"370","author":"Esk","year":"2020","journal-title":"Science"},{"issue":"September","key":"10.1016\/j.ejmg.2021.104285_bib7","article-title":"Minimal incidence of neonatal\/infancy onset diabetes in Italy is 1\u202f: 90 , 000 live births","author":"Iafusco","year":"2011","journal-title":"Acta Diabetol."},{"issue":"2","key":"10.1016\/j.ejmg.2021.104285_bib8","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/j.ajhg.2011.07.006","article-title":"Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors","volume":"89","author":"Poulton","year":"2011","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2021.104285_bib9","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1111\/pedi.12086","article-title":"Microcephaly, epilepsy and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder stavit","volume":"15","author":"Shalev","year":"2015","journal-title":"Pediatr. Diabetes"},{"issue":"4","key":"10.1016\/j.ejmg.2021.104285_bib10","doi-asserted-by":"crossref","first-page":"1276","DOI":"10.1210\/jc.2006-2490","article-title":"Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers","volume":"92","author":"Stanik","year":"2007","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"34","key":"10.1016\/j.ejmg.2021.104285_bib11","doi-asserted-by":"crossref","first-page":"56768","DOI":"10.18632\/oncotarget.18179","article-title":"IER3IP1 deficiency leads to increased \u03b2-cell death and decreased \u03b2-cell proliferation","volume":"8","author":"Sun","year":"2017","journal-title":"Oncotarget"},{"issue":"10","key":"10.1016\/j.ejmg.2021.104285_bib12","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1016\/j.ejmg.2017.07.007","article-title":"Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature","volume":"60","author":"Valenzuela","year":"2017","journal-title":"Eur. J. Med. Genet."},{"issue":"5","key":"10.1016\/j.ejmg.2021.104285_bib13","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1086\/429930","article-title":"Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings","volume":"76","author":"Woods","year":"2005","journal-title":"Am. J. Hum. Genet."},{"issue":"Suppl. L","key":"10.1016\/j.ejmg.2021.104285_bib14","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.gene.2004.04.033","article-title":"Cloning and characterization of a novel endoplasmic reticulum localized G-patch domain protein, IER3IP1","volume":"337","author":"Yiu","year":"2004","journal-title":"Gene"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721221001518?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721221001518?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:52:03Z","timestamp":1761709923000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721221001518"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9]]},"references-count":14,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2021,9]]}},"alternative-id":["S1769721221001518"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2021.104285","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2021,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2021.104285","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"104285"}}