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The 1.1 Mb duplication was detected by Affymetrix 100K GeneChip\u00ae array genome hybridization and involves the genomic region between 45,093,544 and 46,196,038 base pairs on chromosome 17 (NCBI build 36.1). The patient has microcephaly, unusual cup\u2010shaped ears, scoliosis and other skeletal defects. Two genes involved in the duplicated region, <jats:italic>PPP1R9B<\/jats:italic> and <jats:italic>COL1A1<\/jats:italic>, are strong candidates for producing her phenotype. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32827","type":"journal-article","created":{"date-parts":[[2009,5,16]],"date-time":"2009-05-16T00:15:44Z","timestamp":1242432944000},"page":"1257-1262","source":"Crossref","is-referenced-by-count":15,"title":["A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies"],"prefix":"10.1002","volume":"149A","author":[{"given":"Farah R.","family":"Zahir","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvie","family":"Langlois","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kim","family":"Gall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrice","family":"Eydoux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco A.","family":"Marra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan M.","family":"Friedman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,5,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.18.9956"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.21319"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0177(2000)9999:9999<::AID-DVDY1026>3.0.CO;2-B"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000087531"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3180ca9a9a"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2042"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/nbdi.2002.0506"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7580.2005.00487.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.16.9287"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/507471"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.3109\/08830189509056711"},{"key":"e_1_2_6_13_1","first-page":"103","volume-title":"Collagen: The collagen family; structure, assembly and organization in the extracellular matrix. 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