{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T00:15:11Z","timestamp":1759968911319,"version":"build-2065373602"},"reference-count":6,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,5,2]],"date-time":"2025-05-02T00:00:00Z","timestamp":1746144000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>KIDINS220<\/jats:italic> plays a key role in neuronal survival, differentiation, and synaptic function. Abnormalities in its expression have been linked postnatally to neurodevelopmental disorders and SINO syndrome though prenatal presentations are rarely described. We report a novel de novo heterozygous <jats:italic>KIDINS220<\/jats:italic> variant identified prenatally associated with bilateral ventriculomegaly, abnormal anterior horns, aqueductal stenosis, and a hypoplastic corpus callosum. This is the first prenatal case of such findings in <jats:italic>KIDINS220<\/jats:italic>, emphasizing the value of trio WES\/WGS for diagnosis and counseling.<\/jats:p>","DOI":"10.1002\/pd.6804","type":"journal-article","created":{"date-parts":[[2025,5,3]],"date-time":"2025-05-03T01:39:08Z","timestamp":1746236348000},"page":"825-828","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<i>KIDINS220<\/i> Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct Stenosis"],"prefix":"10.1002","volume":"45","author":[{"given":"Kimia","family":"Ghannad\u2010Zadeh","sequence":"first","affiliation":[{"name":"Temerty Faculty of Medicine University of Toronto  Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Shannon","sequence":"additional","affiliation":[{"name":"Temerty Faculty of Medicine University of Toronto  Toronto Canada"},{"name":"Department of Pathology 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