{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:07:00Z","timestamp":1761102420504,"version":"3.40.5"},"reference-count":28,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,4,30]],"date-time":"2020-04-30T00:00:00Z","timestamp":1588204800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a case of a middle interhemispheric variant of antenatal discovery associated with a de novo missense variant (NM_007129.5: c.1109G&gt;A p.(Cys370Tyr))\u00a0in the\u00a0ZIC2\u00a0gene. Our case represents the first prenatal description of a ZIC2 missense mutation found in association with syntelencephaly.<\/jats:p>","DOI":"10.1002\/ccr3.2896","type":"journal-article","created":{"date-parts":[[2020,4,30]],"date-time":"2020-04-30T18:57:43Z","timestamp":1588273063000},"page":"1287-1292","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Middle interhemispheric variant of holoprosencephaly: First prenatal report of a ZIC2 missense mutation"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7408-883X","authenticated-orcid":false,"given":"Caroline","family":"Gounongb\u00e9","sequence":"first","affiliation":[{"name":"Department of Fetal Medicine CHU Saint\u2010Pierre Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9416-2400","authenticated-orcid":false,"given":"Martina","family":"Marangoni","sequence":"additional","affiliation":[{"name":"Center of Human Genetics H\u00f4pital Erasme Universit\u00e9 Libre de Bruxelles Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanessa","family":"Gouder de Beauregard","sequence":"additional","affiliation":[{"name":"Department of Pediatrics CHU Saint\u2010Pierre Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e9lanie","family":"Delaunoy","sequence":"additional","affiliation":[{"name":"Center of Human Genetics H\u00f4pital Erasme Universit\u00e9 Libre de Bruxelles Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrice","family":"Jissendi","sequence":"additional","affiliation":[{"name":"Department of Radiology H\u00f4pitaux Iris Sud and CHU Saint\u2010Pierre Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2766-1805","authenticated-orcid":false,"given":"Marie","family":"Cassart","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine CHU Saint\u2010Pierre Brussels Belgium"},{"name":"Department of Radiology H\u00f4pitaux Iris Sud and CHU Saint\u2010Pierre Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"D\u00e9sir","sequence":"additional","affiliation":[{"name":"Center of Human Genetics H\u00f4pital Erasme Universit\u00e9 Libre de Bruxelles Brussels Belgium"},{"name":"Department of Radiology H\u00f4pitaux Iris Sud and CHU Saint\u2010Pierre Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,4,30]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-8"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30249"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A2123"},{"issue":"2","key":"e_1_2_8_5_1","first-page":"431","article-title":"Middle interhemispheric fusion: an unusual variant of holoprosencephaly","volume":"14","author":"Barkovich AJ","year":"1993","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30250"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30253"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30236"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10587"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100339"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0695-5"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12722"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.01.005"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20982"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btw094"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-981-10-7311-3_14"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002567"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.073049"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10024001-0200-5"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gyobfe.2015.02.009"},{"issue":"9","key":"e_1_2_8_21_1","first-page":"QD11","article-title":"Middle interhemispheric variant of holoprosencephaly \u2010 presenting as non\u2010visualized cavum septum pellucidum and an interhemispheric cyst in a 19\u2010weeks fetus","volume":"9","author":"Vasudeva A","year":"2015","journal-title":"J Clin Diagn Res"},{"key":"e_1_2_8_22_1","first-page":"1034","article-title":"Prenatal MR findings of the middle interhemispheric variant of holoprosencephaly","volume":"25","author":"Pulitzer SB","year":"2004","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961230)66:4<433::AID-AJMG9>3.0.CO;2-L"},{"issue":"1","key":"e_1_2_8_24_1","first-page":"151","article-title":"The middle interhemispheric variant of holoprosencephaly","volume":"23","author":"Simon EM","year":"2002","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1259\/bjr.20160115"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-010-1733-4"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-009-1479-z"},{"key":"e_1_2_8_28_1","first-page":"394","article-title":"Middle interhemispheric variant oh holoprosencephaly associated with diffuse polymicrogyria","volume":"24","author":"Takanashi J","year":"2003","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000037483.31989.B9"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fccr3.2896","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.2896","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.2896","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.2896","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T14:12:07Z","timestamp":1693923127000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.2896"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,30]]},"references-count":28,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["10.1002\/ccr3.2896"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.2896","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"type":"print","value":"2050-0904"},{"type":"electronic","value":"2050-0904"}],"subject":[],"published":{"date-parts":[[2020,4,30]]},"assertion":[{"value":"2019-11-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-01-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-30","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}