{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T02:31:11Z","timestamp":1777516271153,"version":"3.51.4"},"reference-count":12,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Child Neurology Open"],"published-print":{"date-parts":[[2021,1,1]]},"abstract":"<jats:p>Mowat\u2013Wilson syndrome (MWS) is an autosomal dominant genetic disorder caused by ZEB2 gene mutations, manifesting with unique facial characteristics, moderate to severe intellectual problems, and congenital malformations as Hirschsprung disease, genital and ophthalmological anomalies, and congenital cardiac anomalies. Herein, a case of 1-year-old boy with isolated agenesis of corpus callosum (IACC) in the prenatal period is presented. He was admitted postnatally with Hirschsprung disease (HSCR), hypertelorism, uplifted earlobes, deeply set eyes, frontal bossing, oval-shaped nasal tip, \u2018\u2018M\u2019\u2019 shaped upper lip, opened mouth and prominent chin, and developmental delay. Hence, MWS was primarily considered and confirmed by the ZEB2 gene mutation analysis. His karyotype was normal. He had a history of having a prenatally terminated brother with similar features. Antenatally detected IACC should prompt a detailed investigation including karyotype and microarray; even if they are normal then whole exome sequencing (WES) should be done.<\/jats:p>","DOI":"10.1177\/2329048x211006511","type":"journal-article","created":{"date-parts":[[2021,4,23]],"date-time":"2021-04-23T03:18:42Z","timestamp":1619147922000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis"],"prefix":"10.1177","volume":"8","author":[{"given":"Nesrin","family":"\u015eenbil","sequence":"first","affiliation":[{"name":"Department of pediatric neurology, K\u0131r\u0131kkale University Faculty of Medicine, K\u0131r\u0131kkale, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeynep","family":"Arslan","sequence":"additional","affiliation":[{"name":"Department of pediatrics, K\u0131r\u0131kkale Un\u0131versity Faculty of Medicine, K\u0131r\u0131kkale, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Derya Beyza","family":"Say\u0131n Kocakap","sequence":"additional","affiliation":[{"name":"Department of Genetics, K\u0131r\u0131kkale University Faculty of Medicine, K\u0131r\u0131kkale, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasemin","family":"Bilgili","sequence":"additional","affiliation":[{"name":"Department of Radiology, K\u0131r\u0131kkale University Faculty of Medicine, K\u0131r\u0131kkale, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2021,4,23]]},"reference":[{"key":"bibr1-2329048X211006511","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.8.617"},{"key":"bibr2-2329048X211006511","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10226"},{"key":"bibr3-2329048X211006511","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61557"},{"key":"bibr4-2329048X211006511","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.221"},{"key":"bibr5-2329048X211006511","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32693"},{"key":"bibr6-2329048X211006511","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2017.0949"},{"key":"bibr7-2329048X211006511","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.176"},{"key":"bibr8-2329048X211006511","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31405"},{"key":"bibr9-2329048X211006511","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2017.08.003"},{"key":"bibr10-2329048X211006511","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2016-0445"},{"key":"bibr11-2329048X211006511","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5158"},{"key":"bibr12-2329048X211006511","doi-asserted-by":"publisher","DOI":"10.1038\/s41439-018-0021-y"}],"container-title":["Child Neurology Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X211006511","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2329048X211006511","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X211006511","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T15:58:04Z","timestamp":1777391884000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2329048X211006511"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,1]]},"references-count":12,"alternative-id":["10.1177\/2329048X211006511"],"URL":"https:\/\/doi.org\/10.1177\/2329048x211006511","relation":{},"ISSN":["2329-048X","2329-048X"],"issn-type":[{"value":"2329-048X","type":"print"},{"value":"2329-048X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,1]]},"article-number":"2329048X211006511"}}