{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T17:01:22Z","timestamp":1765040482577},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,9,24]],"date-time":"2014-09-24T00:00:00Z","timestamp":1411516800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"EMBRI Grants from the Eulji University","award":["2012EMBRISN0004"],"award-info":[{"award-number":["2012EMBRISN0004"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,1]]},"abstract":"<jats:sec><jats:label \/><jats:p>Relatively little is known about 7q terminal deletion contiguous gene deletion syndrome. The deleted region includes more than 40 OMIM genes. We here report on a 13\u2010year\u2010old boy with7q terminal deletion syndrome, a 6.89\u2010Mb sized deletion on 7q36.1q36.3, identified by oligonucleotide array comparative genomic hybridization (CGH). He showed microform holoprosencephaly with microcephaly, distinctive facial features, severe intellectual disabilities, behavior problems, seizures, short stature, penoscrotal transposition, and ulnar ray deficiency. To date, no case of penoscrotal transposition or ulnar ray deficiency has been reported in 7q terminal syndrome. The majority of our patient presentations were attributed to dosage expression of the <jats:italic>SHH<\/jats:italic> gene with contributions from deleted genes within 7q. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36792","type":"journal-article","created":{"date-parts":[[2014,9,24]],"date-time":"2014-09-24T18:30:24Z","timestamp":1411583424000},"page":"198-203","source":"Crossref","is-referenced-by-count":8,"title":["A 13\u2010year\u2010old boy with a 7q36.1q36.3 deletion with additional findings"],"prefix":"10.1002","volume":"167","author":[{"given":"Cha","family":"Hyohyeon","sequence":"first","affiliation":[{"name":"Department of Pediatrics Eulji General Hospital College of Medicine Eulji University Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cha Gon","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Eulji General Hospital College of Medicine Eulji University Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,9,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/1753193409358240"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35584"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01465.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33918"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/302723"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32197"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00498.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980113)75:2<153::AID-AJMG6>3.0.CO;2-U"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mp.4001498"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.D.02011"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhsa.2005.07.006"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.86.4.293"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30031"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.1104"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0248"},{"key":"e_1_2_6_17_1","first-page":"1","article-title":"Korean National Growth Charts: Review of developmental process and an outlook","volume":"51","author":"Moon JS","year":"2008","journal-title":"2007"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(05)65708-4"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature04710"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1083423"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01192.x"},{"key":"e_1_2_6_22_1","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1159\/000341373","article-title":"High intellectual function in individuals with mutation\u2010positive microform holoprosencephaly","volume":"3","author":"Solomon BD","year":"2012","journal-title":"Mol Syndromol"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1875-9572(09)60007-3"}],"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.36792","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36792","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T01:56:28Z","timestamp":1696643788000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36792"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,24]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,1]]}},"alternative-id":["10.1002\/ajmg.a.36792"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36792","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,24]]}}}