{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T11:59:24Z","timestamp":1792151964643,"version":"4.4.0"},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,4]],"date-time":"2005-06-04T00:00:00Z","timestamp":1117843200000},"content-version":"vor","delay-in-days":6790,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1986,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on two sibs (a boy and a girl) with the Freeman\u2010Sheldon (FS) syndrome (also called cranio\u2010carpo\u2010tarsal \u201cdysplasia\u201d or whistling face syndrome), born to normal parents. This unusual finding may represent genetic heterogeneity, germinal mutation of an autosomal dominant gene, and an epistatic recessive gene that supressed the expression of the abnormal gene in the father, his parents being first cousins. The last 2 mechanisms seem less probable.<\/jats:p>","DOI":"10.1002\/ajmg.1320250312","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:08:47Z","timestamp":1118520527000},"page":"507-511","source":"Crossref","is-referenced-by-count":19,"title":["New evidence for genetic heterogeneity of the Freeman\u2010Sheldon syndrome"],"prefix":"10.1002","volume":"25","author":[{"given":"Jos\u00e9 Mar\u00eda","family":"S\u00e1nchez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catalina Patricia","family":"Kaminker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.2.139"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.5.398"},{"key":"e_1_2_1_4_1","first-page":"277","article-title":"The Freeman\u2010Sheldon syndrome with mental retardation","volume":"34","author":"Cirillo Silengo M","year":"1982","journal-title":"Minerva Pediatr"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.5.364"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.13.75.277"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110208"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1542\/peds.69.3.328","article-title":"Autosomal recessive type of whistling face syndrome in twins","volume":"69","author":"Kouseff BG","year":"1982","journal-title":"Pediatrics"},{"key":"e_1_2_1_9_1","first-page":"259","article-title":"The Freeman\u2010Sheldon syndrome","volume":"4","author":"Mustacchi Z","year":"1979","journal-title":"Rev Brasil Genet II"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1969.02100030429007"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320250312","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320250312","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T19:46:16Z","timestamp":1697831176000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320250312"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,11]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1986,11]]}},"alternative-id":["10.1002\/ajmg.1320250312"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320250312","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,11]]}}}