{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T19:00:58Z","timestamp":1780081258464,"version":"3.54.0"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,11,15]],"date-time":"2013-11-15T00:00:00Z","timestamp":1384473600000},"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":[[2014,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>We report on a 21\u2010year old woman with intellectual disability, autistic features, severe obesity, and facial dysmorphisms suggestive of Wolf\u2013Hirschhorn syndrome (WHS). Array\u2010CGH analysis showed a 2.89\u2009Mb deletion on chromosome 14q11.2 containing 47 known genes. The most interesting genes included in this deletion are <jats:italic>CHD8<\/jats:italic>, a chromodomain helicase DNA binding protein that is associated with autism spectrum disorders, and <jats:italic>MMP14<\/jats:italic>, a matrix metalloproteinase that has been linked to obesity and type 2 diabetes. This report shows that 14q11.2 microdeletions can mimic WHS and suggests that gene(s) in the deleted interval that may be responsible for a phenocopy of WHS. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36200","type":"journal-article","created":{"date-parts":[[2013,11,15]],"date-time":"2013-11-15T22:15:07Z","timestamp":1384553707000},"page":"190-193","source":"Crossref","is-referenced-by-count":16,"title":["A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf\u2013Hirschhorn syndrome"],"prefix":"10.1002","volume":"164","author":[{"given":"Gaetano","family":"Terrone","sequence":"first","affiliation":[{"name":"Department of Translational Medicine (Section of Pediatrics) Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerarda","family":"Cappuccio","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine (Section of Pediatrics) Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Genesio","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnology Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Esposito","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine (Section of Pediatrics) Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Fiorentino","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine (Section of Pediatrics) Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Riccitelli","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine (Section of Pediatrics) Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucio","family":"Nitsch","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnology Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Brunetti\u2010Pierri","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine (Section of Pediatrics) Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ennio","family":"Del Giudice","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine (Section of Pediatrics) Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,11,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30187"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.2337\/db10-0073"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32695"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1110081108"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.24.18.8145-8153.2004"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00620.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11011"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2443.1999.00256.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1227764"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M313983200"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/bgs132"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.17.8919"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.050823"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/367925"}],"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.36200","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36200","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T01:33:33Z","timestamp":1696556013000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36200"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11,15]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,1]]}},"alternative-id":["10.1002\/ajmg.a.36200"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36200","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,11,15]]}}}