{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T03:29:15Z","timestamp":1790220555301,"version":"4.1.0"},"reference-count":8,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,12,5]],"date-time":"2019-12-05T00:00:00Z","timestamp":1575504000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:p>What's already known?\n<jats:list list-type=\"bullet\">\n<jats:list-item><jats:p><jats:italic>KIAA1109<\/jats:italic> pathogenic variants are associated with disorders of brain development ranging from major cerebral malformations to moderate cerebral atrophy.<\/jats:p><\/jats:list-item>\n<jats:list-item><jats:p>The most severe form of tubulinopathies includes microlissencephaly, voluminous germinal matrices and brainstem dysgenesis.<\/jats:p><\/jats:list-item>\n<\/jats:list><\/jats:p><jats:p>What does this study add?\n<jats:list list-type=\"bullet\">\n<jats:list-item><jats:p>The prenatal cerebral pattern of the most severe form of <jats:italic>KIAA1109<\/jats:italic>\u2010related disorder can be similar to the one found in tubulinopathies but was, in our short series, associated with clubfoot and\/or arthrogryposis and, in some cases, with cardiac and ophthalmologic anomalies.<\/jats:p><\/jats:list-item>\n<\/jats:list><\/jats:p>","DOI":"10.1002\/pd.5589","type":"journal-article","created":{"date-parts":[[2019,11,18]],"date-time":"2019-11-18T05:34:21Z","timestamp":1574055261000},"page":"276-281","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Prenatal cerebral imaging features of a new syndromic entity related to <i>KIAA1109<\/i> pathogenic variants mimicking tubulinopathy"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0115-2586","authenticated-orcid":false,"given":"Sara","family":"Cabet","sequence":"first","affiliation":[{"name":"Department of Pediatric and Fetal Imaging Hospital Femme M\u00e8re Enfant  Lyon Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Putoux","sequence":"additional","affiliation":[{"name":"Department of Genetics Hospital Femme M\u00e8re Enfant  Lyon Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie","family":"Buenerd","sequence":"additional","affiliation":[{"name":"Department of Pathology Hospital Femme M\u00e8re Enfant  Lyon Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucie","family":"Gueneau","sequence":"additional","affiliation":[{"name":"Center for Integrative Genomics  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Reymond","sequence":"additional","affiliation":[{"name":"Center for Integrative Genomics  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin W.H.","family":"Thia","sequence":"additional","affiliation":[{"name":"Department of Maternal Fetal Medicine KK Women's &amp; 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