{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T12:04:26Z","timestamp":1762430666737},"reference-count":14,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2012,7,11]],"date-time":"2012-07-11T00:00:00Z","timestamp":1341964800000},"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":[[2012,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital anterior midline cervical cleft (CAMCC) is a rare anomaly, with less than 100 cases reported. The cause of CAMCC is unknown, but genetic factors must be considered as part of the etiology. Three cases of CAMCC are presented. This is the first genetic study of isolated CAMCC. Conventional cytogenetics, array\u2010comparative genomic hybridization (CGH) and whole exome sequencing were performed, including a search of relevant syndromes in the Online Mendelian Inheritance in Man (OMIM) database. Array CGH indicated a loss of the <jats:italic>PAPPA<\/jats:italic> gene in one of the patients, while exome sequencing showed a mutation in <jats:italic>SIX5<\/jats:italic> in another patient. Both aberrations were inherited from unaffected parents. These results most likely imply that the identified mutations are not disease\u2010causing, although they may be contributing factors if CAMCC has a polygenic inheritance. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35466","type":"journal-article","created":{"date-parts":[[2012,7,11]],"date-time":"2012-07-11T13:55:26Z","timestamp":1342014926000},"page":"2021-2026","source":"Crossref","is-referenced-by-count":15,"title":["Genetic studies in congenital anterior midline cervical cleft"],"prefix":"10.1002","volume":"158A","author":[{"given":"L.P.","family":"Jakobsen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Pfeiffer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Andersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Eiberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Hansen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Mang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Bak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.S.","family":"M\u00f8ller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.L.","family":"Klitten","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Tommerup","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,7,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0297-157"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/1294"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/318802"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320020305"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/513322"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0397-266"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.3109\/00016349.2010.505639"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-199602000-00006"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1010-5182(05)80479-2"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0396-241"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0308475101"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348940211100305"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-0503(76)80013-6"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970030307"}],"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.35466","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35466","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T10:45:48Z","timestamp":1700563548000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35466"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,7,11]]},"references-count":14,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2012,8]]}},"alternative-id":["10.1002\/ajmg.a.35466"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35466","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,7,11]]}}}