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She had a de novo reciprocal translocation between chromosomes 3q13.2 and 12p11.2. Certain gene(s) located at either of the breakpoints, 3q13.2 and 12p11.2, may be involved in the pathogenesis of her arhinia. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30268","type":"journal-article","created":{"date-parts":[[2004,8,24]],"date-time":"2004-08-24T22:05:46Z","timestamp":1093385146000},"page":"200-203","source":"Crossref","is-referenced-by-count":28,"title":["Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2)"],"prefix":"10.1002","volume":"130A","author":[{"given":"Jia\u2010Woei","family":"Hou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,8,24]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"1312","article-title":"Congenital arhinia","volume":"17","author":"Albernaz VS","year":"1996","journal-title":"Am J Neuroradiol"},{"key":"e_1_2_4_3_1","doi-asserted-by":"crossref","first-page":"3975","DOI":"10.1242\/dev.128.20.3975","article-title":"Several nasal clefting and abnormal embryonic apoptosis in Alx3\/Alx4 double mutant mice","volume":"128","author":"Beverdam A","year":"2001","journal-title":"Development"},{"key":"e_1_2_4_4_1","first-page":"237","article-title":"Arhinia revisited","volume":"25","author":"Cohen D","year":"1987","journal-title":"Rhinology"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.2000.00081.x"},{"key":"e_1_2_4_6_1","first-page":"907","article-title":"Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32\u201033.1","volume":"52","author":"Dixon MJ","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2002.0696"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(98)00082-3"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960102)61:1<71::AID-AJMG14>3.0.CO;2-T"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220204"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-199702000-00036"},{"key":"e_1_2_4_12_1","first-page":"467","article-title":"Embryological study of nasal cavity development in human embryos with reference to congenital nostril atresia","volume":"46","author":"Nishimura Y","year":"1993","journal-title":"Acta Anat (Basel)"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1006\/mcne.2001.1019"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470000419"},{"key":"e_1_2_4_15_1","doi-asserted-by":"crossref","first-page":"3811","DOI":"10.1242\/dev.126.17.3811","article-title":"Goosecoid acts autonomously in mesenchyme\u2010derived tissues during craniofacial development","volume":"126","author":"Rivera\u2010P\u00e9rez JA","year":"1999","journal-title":"Development"},{"key":"e_1_2_4_16_1","first-page":"708","article-title":"Familiaeire Arhinie mit Petersscher Anomalie und Kiefermissbildungen, ein neues Fehlbildungssyndrom?","volume":"172","author":"Ruprecht KW","year":"1978","journal-title":"Klin Monatsbl Augenheilk"},{"key":"e_1_2_4_17_1","first-page":"313","volume-title":"Langman's medical embryology","author":"Sadler TW","year":"1990"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<310::AID-AJMG51>3.0.CO;2-N"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-199301000-00024"}],"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.30268","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30268","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T21:51:33Z","timestamp":1696197093000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30268"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,8,24]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,10]]}},"alternative-id":["10.1002\/ajmg.a.30268"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30268","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,8,24]]}}}