{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T07:15:21Z","timestamp":1697440521116},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2002,8,15]],"date-time":"2002-08-15T00:00:00Z","timestamp":1029369600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This is a report on a father and his two children with an apparent autosomal dominant condition characterized by craniofacial anomalies, coarctation of the aorta, hypertrophic cardiomyopathy, and other structural heart abnormalities with normal psychomotor development. Some clinical features are reminiscent of Noonan syndrome. Alternatively, this family may have a previously undescribed genetic condition. The family history is suggestive of a new autosomal dominant mutation in the father. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10782","type":"journal-article","created":{"date-parts":[[2002,11,19]],"date-time":"2002-11-19T13:56:46Z","timestamp":1037714206000},"page":"286-290","source":"Crossref","is-referenced-by-count":5,"title":["Noonan syndrome or new autosomal dominant condition with coarctation of the aorta, hypertrophic cardiomyopathy, and minor anomalies"],"prefix":"10.1002","volume":"113","author":[{"given":"Edmond G.","family":"Lemire","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,8,15]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.1.9"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210313"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002469900475"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420290305"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981102)80:2<160::AID-AJMG13>3.0.CO;2-A"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02281861"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210312"},{"key":"e_1_2_5_9_1","first-page":"1","article-title":"Noonan syndrome: a review","volume":"10","author":"Patton MA","year":"1994","journal-title":"Growth Genet Hormones"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.67.2.178"},{"key":"e_1_2_5_11_1","first-page":"174","article-title":"Familial coarctation of the aorta in three generations","volume":"42","author":"Stoll C","year":"1999","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_5_12_1","first-page":"1879","article-title":"Les coarctations aortiques familiales: \u00e0 propos d'une famille","volume":"15","author":"Vaksmann G","year":"1986","journal-title":"Presse Med"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270412"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10782","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10782","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T06:30:29Z","timestamp":1697437829000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10782"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,8,15]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2002,12]]}},"alternative-id":["10.1002\/ajmg.10782"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10782","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,8,15]]}}}