{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T06:42:34Z","timestamp":1780555354937,"version":"3.54.1"},"reference-count":11,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2010,4,13]],"date-time":"2010-04-13T00:00:00Z","timestamp":1271116800000},"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":[[2010,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have identified by microarray\u2010based comparative genomic hybridization analysis (aCGH), a homozygous deletion of 8q24.3 [arr cgh 8q24.3(140,879,937\u2009\u2192\u2009141,021,392)x0 mat pat] in a patient with dysmorphic facial features, dysgenesis of the corpus callosum, and severe mental retardation. The deletion was inherited from asymptomatic, consanguineous parents, each of them being heterozygous for the same deletion. The only gene known to map to this segment is the <jats:italic>NIBP<\/jats:italic> gene, and so far no clinical manifestations have been found in association with this gene mutation in homozygous or heterozygous state in humans. Our findings suggest that a homozygous deletion in the <jats:italic>NIBP<\/jats:italic> gene results in an autosomal recessive condition with multiple abnormalities and severe delay. In addition, the child inherited a 781\u2010kb deletion on 4q32.2 from the mother that contains the <jats:italic>SPOCK3<\/jats:italic> gene. We suggest that this heterozygous deletion is likely to be non\u2010contributory to the phenotype. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33319","type":"journal-article","created":{"date-parts":[[2010,4,13]],"date-time":"2010-04-13T20:28:17Z","timestamp":1271190497000},"page":"1268-1272","source":"Crossref","is-referenced-by-count":29,"title":["A homozygous deletion of 8q24.3 including the <i>NIBP<\/i> gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features"],"prefix":"10.1002","volume":"152A","author":[{"given":"Arie","family":"Koifman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette","family":"Feigenbaum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weimin","family":"Bi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa G.","family":"Shaffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Rosenfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Blaser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,4,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1586\/14737159.5.3.421"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000170992.63691.32"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M501670200"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0703834104"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0000327"},{"key":"e_1_2_6_7_1","first-page":"8896","article-title":"Suppression of membrane\u2010type 1 matrix metalloproteinase (MMP)\u2010mediated MMP\u20102 activation and tumor invasion by testican 3 and its splicing variant gene product, N\u2010Tes","volume":"61","author":"Nakada M","year":"2001","journal-title":"Cancer Res"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05329"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2006.05.004"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.02.006"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30152"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181484b49"}],"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.33319","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33319","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T13:40:34Z","timestamp":1697636434000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33319"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,4,13]]},"references-count":11,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2010,5]]}},"alternative-id":["10.1002\/ajmg.a.33319"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33319","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,4,13]]}}}