{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T22:39:34Z","timestamp":1791499174353,"version":"4.3.4"},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,3,12]],"date-time":"2013-03-12T00:00:00Z","timestamp":1363046400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A variety of candidate genes have been proposed to cause corpus callosum abnormalities (CCAs) in patients with terminal chromosome 1q deletions. Recent data excluded <jats:italic>AKT3<\/jats:italic> and implicated <jats:italic>ZNF238<\/jats:italic> and\/or <jats:italic>CEP170<\/jats:italic> as genes causative of corpus callosum anomalies in patients with 1q43\u20131q44 deletions. We report on a girl with dysmorphic features, seizures beginning in infancy, hypotonia, marked developmental delay, and dysgenesis of the corpus callosum. Chromosomal microarray analysis detected a <jats:italic>de novo<\/jats:italic> 1.47\u2009Mb deletion at 1q44. The deleted interval encompasses the <jats:italic>ZNF238<\/jats:italic> gene but not the <jats:italic>CEP170<\/jats:italic> or <jats:italic>AKT3<\/jats:italic> genes, thus providing additional evidence for the former and against the latter as being causative of corpus callosum anomalies in patients with such deletions. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35779","type":"journal-article","created":{"date-parts":[[2013,3,14]],"date-time":"2013-03-14T02:55:43Z","timestamp":1363229743000},"page":"711-716","source":"Crossref","is-referenced-by-count":29,"title":["Haploinsufficiency of <i>ZNF238<\/i> is associated with corpus callosum abnormalities in 1q44 deletions"],"prefix":"10.1002","volume":"161","author":[{"given":"Seth J.","family":"Perlman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shashikant","family":"Kulkarni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Manwaring","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marwan","family":"Shinawi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,3,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.41.26698"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1073-y"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/519999"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.04.001"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.25.5.1869-1878.2005"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31776"},{"key":"e_1_2_6_8_1","first-page":"131","article-title":"Terminal (1)(q43) long\u2010arm deletion of chromosome no. 1 in a three\u2010year\u2010old female","volume":"12","author":"Mankinen CB","year":"1976","journal-title":"Birth Defects Orig Art Ser"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31611"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.006"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.171"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33558"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.21350"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2009.04.030"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000279261"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30142"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11248-004-8147-8"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.drudis.2008.06.007"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-09-2249"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq544"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01864"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30695"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.055830"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/cdd.2011.144"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35779","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35779","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T01:29:12Z","timestamp":1697592552000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35779"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,12]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,4]]}},"alternative-id":["10.1002\/ajmg.a.35779"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35779","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3,12]]}}}