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She developed seizures at age 3 years with progressive difficulties with balance, loss of fine motor skills and aggressive behavior. She had short stature, microcephaly, and distinct facial features. Her speech was dysarthric, and she demonstrated repetitive hand movements. In this article, we compare the clinical features of our patient with previously reported cases with a 2q23.1 deletion. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33821","type":"journal-article","created":{"date-parts":[[2011,1,26]],"date-time":"2011-01-26T16:34:08Z","timestamp":1296059648000},"page":"424-429","source":"Crossref","is-referenced-by-count":25,"title":["2q23 de novo microdeletion involving the <i>MBD5<\/i> gene in a patient with developmental delay, postnatal microcephaly and distinct facial features"],"prefix":"10.1002","volume":"155","author":[{"given":"Brian H.Y.","family":"Chung","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Stavropoulos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian R.","family":"Marshall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosanna","family":"Weksberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen W.","family":"Scherer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace","family":"Yoon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,1,26]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32612"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32596"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32602"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.052787"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/491719"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20581"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/507471"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32597"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.25.14412"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32600"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.050914"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32599"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058156"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0009-9163.2004.00245.x"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.039453"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.006"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000031431.81555.16"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0513-9"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005-2702"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.2.e13"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.152"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201279"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1086\/379977"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1086\/521274"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.199"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00847.x"}],"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.33821","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33821","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T15:18:27Z","timestamp":1697642307000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33821"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,1,26]]},"references-count":26,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2011,2]]}},"alternative-id":["10.1002\/ajmg.a.33821"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33821","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,1,26]]}}}