{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T11:06:51Z","timestamp":1778670411857,"version":"3.51.4"},"reference-count":23,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2011,11,8]],"date-time":"2011-11-08T00:00:00Z","timestamp":1320710400000},"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":[[2011,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a patient with a submicroscopic deletion of 12q13 detected by array\u2010CGH and confirmed by FISH. He was haploinsufficient for the <jats:italic>HOXC<\/jats:italic> gene cluster and some other neighboring genes. <jats:italic>HOX<\/jats:italic> genes have an important role in the initial formation of the body. The patient showed characteristic features including severe kyphoscoliosis, digital abnormalities, cardiac anomaly, expressive language, and global developmental delay. Radiologic features of the fingers had some similarities with those for multiple synostosis syndrome. No human genetic disorders due to <jats:italic>HOXC<\/jats:italic> abnormalities are yet known. We tentatively assume that his skeletal anomalies are associated with haploinsufficiency of the <jats:italic>HOXC<\/jats:italic> gene cluster. Further studies are necessary to determine the clinical importance of haploinsufficiency of the <jats:italic>HOXC<\/jats:italic> gene cluster. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34324","type":"journal-article","created":{"date-parts":[[2011,11,8]],"date-time":"2011-11-08T18:46:00Z","timestamp":1320777960000},"page":"2997-3001","source":"Crossref","is-referenced-by-count":12,"title":["Submicroscopic deletion of 12q13 including <i>HOXC<\/i> gene cluster with skeletal anomalies and global developmental delay"],"prefix":"10.1002","volume":"155","author":[{"given":"Nobuhiko","family":"Okamoto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daisuke","family":"Tamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiko","family":"Shimojima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiyuki","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,11,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.7.945"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.02.015"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp238"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32262"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1996.0159"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.033555"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.12.1.11"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33860"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.05.016"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90406-3"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M312731200"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0297-179"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1996.0051"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.19.13711"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2008.08.013"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/422015"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2002.6735"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2000.9651"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4773(95)00371-1"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/82511"},{"key":"e_1_2_7_22_1","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1242\/dev.125.2.279","article-title":"Increased apoptosis of motoneurons and altered somatotopic maps in the brachial spinal cord of Hoxc\u20108\u2010deficient mice","volume":"125","author":"Tiret L","year":"1998","journal-title":"Development"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1636"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201795"}],"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.34324","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34324","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T14:13:33Z","timestamp":1697638413000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34324"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11,8]]},"references-count":23,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2011,12]]}},"alternative-id":["10.1002\/ajmg.a.34324"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34324","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,11,8]]}}}