{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T06:09:46Z","timestamp":1781244586041,"version":"3.54.1"},"reference-count":35,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,2,11]],"date-time":"2017-02-11T00:00:00Z","timestamp":1486771200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:title>Key Clinical Message<\/jats:title><jats:p>This case report describes a patient with a 22q11.2 duplication. His features, which include <jats:styled-content style=\"fixed-case\">VACTERL<\/jats:styled-content> association with an esophageal atresia\/tracheo\u2010esophageal fistula and a vascular ring, expand the previously described phenotype for this duplication.<\/jats:p>","DOI":"10.1002\/ccr3.815","type":"journal-article","created":{"date-parts":[[2017,2,11]],"date-time":"2017-02-11T05:06:41Z","timestamp":1486789601000},"page":"351-356","source":"Crossref","is-referenced-by-count":15,"title":["22q11.2 microduplication syndrome with associated esophageal atresia\/tracheo\u2010esophageal fistula and vascular ring"],"prefix":"10.1002","volume":"5","author":[{"given":"Linda T.","family":"Nguyen","sequence":"first","affiliation":[{"name":"Department of Pediatrics Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9255-8110","authenticated-orcid":false,"given":"Rachel","family":"Fleishman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilee","family":"Flynn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajeev","family":"Prasad","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Surgery Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Achintya","family":"Moulick","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Surgery Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cesar Igor","family":"Mesia","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sue","family":"Moyer","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Surgery Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reena","family":"Jethva","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Genomic Medicine Saint Peter's University Hospital New Brunswisk New Jersey USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,2,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31227"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/378818"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1237724"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00938.x"},{"key":"e_1_2_6_6_1","first-page":"135","article-title":"Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood","volume":"23","author":"Van Camperhout S.","year":"2012","journal-title":"Genet. Couns."},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.09.001"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000354095"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32572"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073810394846"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.08.011"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31910"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4478"},{"key":"e_1_2_6_14_1","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1097\/GIM.0b013e31822c79f9","article-title":"An evidence\u2010based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities","volume":"13","author":"Kaminsky E. B.","journal-title":"Genet. Med."},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182217a06"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31499"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201494"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/429841"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.7.1157"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30847"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.07.005"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1080\/15622970601026701"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2008.03048.x"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-015-0417-5"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2015.04.090"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1159\/000346411"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34051"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2013.10.037"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37066"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36809"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.11.051"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.11.082"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.5.e62"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.05.009"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20437"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.038158"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fccr3.815","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.815","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T02:35:19Z","timestamp":1696559719000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.815"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,11]]},"references-count":35,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["10.1002\/ccr3.815"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.815","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,11]]}}}