{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T03:40:00Z","timestamp":1773027600502,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2011,8,16]],"date-time":"2011-08-16T00:00:00Z","timestamp":1313452800000},"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":[[2011,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a patient with an interstitial deletion at 13q12.11. He had mild developmental delay, craniofacial dysmorphism, a pectus excavatum, narrow shoulders, malformed toes, and caf\u00e9\u2010au\u2010lait spots. Array CGH analysis disclosed a de novo deletion spanning 2.1\u2009Mb, within cytogenetic band 13q12.11. The deletion produces hemizygozity for 16 known genes, among which <jats:italic>GJA3<\/jats:italic>, <jats:italic>GJB2<\/jats:italic>, <jats:italic>GJB6<\/jats:italic>, <jats:italic>IFT88<\/jats:italic>, <jats:italic>LATS2<\/jats:italic>, and <jats:italic>FGF9<\/jats:italic> have potential clinical significance. The observed phenotype may be due to mutation in one of the 16 genes, or to a combination of deletion and\/or mutation in a number of them. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34198","type":"journal-article","created":{"date-parts":[[2011,8,16]],"date-time":"2011-08-16T16:08:03Z","timestamp":1313510883000},"page":"2538-2542","source":"Crossref","is-referenced-by-count":8,"title":["A de novo 2.1\u2010Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features"],"prefix":"10.1002","volume":"155","author":[{"given":"Vazken M.","family":"Der Kaloustian","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Russell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Swaroop","family":"Aradhya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriele","family":"Richard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernard","family":"Rosenblatt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serge","family":"Melan\u00e7on","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,8,16]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa012052"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(98)11071-1"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/12612"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33176"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.1.50"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2004.22518.x"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/79851"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/302383"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.7.1237"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.006"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2009.09137.x"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00539009"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/339986"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050839"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390051029"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.93"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.lungcan.2008.09.011"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa075974"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.06.007"}],"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.34198","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34198","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T14:32:41Z","timestamp":1697639561000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34198"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,8,16]]},"references-count":19,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2011,10]]}},"alternative-id":["10.1002\/ajmg.a.34198"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34198","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,8,16]]}}}