{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T14:12:26Z","timestamp":1698415946045},"reference-count":4,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4389,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a German boy, born to nonconsanguineous parents, with an apparently new combination of multiple congenital anomalies including extraordinary hirsutism, marked brachycephaly, abnormal position of thumbs, pedes excavati with claw\u2010toes, an abnormal face, and mental retardation. Additionally the boy manifests a disorder of uric acid metabolism. This sporadic case may represent a new syndrome due to a fresh autosomal or X\u2010linked mutation, or chance\u2010isolated case due to segregation of an autosomal recessive gene. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320460412","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:28:22Z","timestamp":1118507302000},"page":"403-409","source":"Crossref","is-referenced-by-count":6,"title":["Hirsutism\u2013skeletal dysplasia\u2013mental retardation syndrome with abnormal face and a uric acid metabolism disorder"],"prefix":"10.1002","volume":"46","author":[{"given":"Hans\u2010Rudolf","family":"Wiedemann","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans\u2010Dieter","family":"Oldigs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans\u2010Conrad","family":"Oppermann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oskar","family":"Oster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290316"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00281261"},{"key":"e_1_2_1_4_1","first-page":"307","volume-title":"Skeletal Dysplasias","author":"Kaitila II","year":"1982"},{"issue":"5","key":"e_1_2_1_5_1","first-page":"71","article-title":"Skeletal dysplasia, occipital horns, diarrhea and obstructive uropathy\u2014a new hereditary syndrome","author":"Lazoff St G","year":"1975","journal-title":"BDOAS"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320460412","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320460412","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T05:26:50Z","timestamp":1698298010000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320460412"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,6]]},"references-count":4,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1993,6]]}},"alternative-id":["10.1002\/ajmg.1320460412"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320460412","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,6]]}}}