{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:03:57Z","timestamp":1792166637817,"version":"4.4.0"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,11,26]],"date-time":"2014-11-26T00:00:00Z","timestamp":1416960000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2015,2]]},"abstract":"<jats:title>Key Clinical Message<\/jats:title><jats:p>Megalencephalic leukoencephalopathy (<jats:styled-content style=\"fixed-case\">MLC<\/jats:styled-content>) is a rare neurological disorder with an autosomal recessive pattern. Clinical diagnosis was based on macrocephaly, recurrent seizure, and magnetic resonance imaging (<jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>). Here we report first finding of a novel homozygous single base deletion in the <jats:italic><jats:styled-content style=\"fixed-case\">MLC<\/jats:styled-content>1<\/jats:italic> gene in an affected Iranian child causing a premature stop codon (p.L150fs.160X).<\/jats:p>","DOI":"10.1002\/ccr3.168","type":"journal-article","created":{"date-parts":[[2014,11,26]],"date-time":"2014-11-26T05:58:56Z","timestamp":1416981536000},"page":"114-117","source":"Crossref","is-referenced-by-count":3,"title":["Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran"],"prefix":"10.1002","volume":"3","author":[{"given":"Gholamreza","family":"Shariati","sequence":"first","affiliation":[{"name":"Narges genetic &amp; PND Laboratory Kianpars East Mihan street Ahvaz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Hamid","sequence":"additional","affiliation":[{"name":"Department of Biotechnology Pasteur Institute Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alihossein","family":"Saberi","sequence":"additional","affiliation":[{"name":"Department of Genetics Medical School of Ahvaz Jundishapur University Ahvaz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Behnaz","family":"Andashti","sequence":"additional","affiliation":[{"name":"Department of Genetics Shahid Chamran University Ahvaz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamid","family":"Galehdari","sequence":"additional","affiliation":[{"name":"Department of Genetics Shahid Chamran University Ahvaz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,11,26]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410370308"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004010050510"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0682-x"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9407"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.02.009"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20332"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh291"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/64.5.412"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2007.01.016"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.20115"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fccr3.168","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.168","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.168","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.168","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T17:24:06Z","timestamp":1696353846000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.168"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11,26]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,2]]}},"alternative-id":["10.1002\/ccr3.168"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.168","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,11,26]]}}}