{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T22:55:58Z","timestamp":1780354558915,"version":"3.54.1"},"reference-count":3,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,12,2]],"date-time":"2004-12-02T00:00:00Z","timestamp":1101945600000},"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":[[2005,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In 1994, Giuffr\u00e8 et al. reported two unrelated families in which some of the members had microcephaly and radio\u2010ulnar synostosis, suggesting a new condition. Since this first report, Tsukahara et al. and Udler et al. described two distinct patients with a different condition characterized by radio\u2010ulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation. Here we report on a new case of microcephaly and radio\u2010ulnar synostosis and discuss the possible relationship between Tsukahara's syndrome and the phenotype described by Giuffr\u00e8 et al. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30415","type":"journal-article","created":{"date-parts":[[2004,12,2]],"date-time":"2004-12-02T23:48:04Z","timestamp":1102031284000},"page":"189-190","source":"Crossref","is-referenced-by-count":6,"title":["Additional case of Tsukahara's syndrome or new syndrome: Further delineation of the association of microcephaly and radio\u2010ulnar synostosis"],"prefix":"10.1002","volume":"132A","author":[{"given":"Angelo","family":"Selicorni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Ferrarini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giacomo","family":"Cagnoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Fratoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michaela","family":"Bottigelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donatella","family":"Milani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,12,2]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320510319"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580214"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981228)80:5<526::AID-AJMG18>3.0.CO;2-L"}],"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.30415","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30415","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T16:20:30Z","timestamp":1697646030000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30415"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,12,2]]},"references-count":3,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,1,15]]}},"alternative-id":["10.1002\/ajmg.a.30415"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30415","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,12,2]]}}}