{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:58Z","timestamp":1786976818219,"version":"build-2736575974"},"reference-count":10,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4263,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Evidence for the location of the Saethre\u2010Chotzen acrocephalosyndactyly mutation on 7p21\u201322 is based on genetic linkage studies in families segregating for this autosomal dominant disorder. Linkage studies were guided by several reports of chromosome deletions in this region giving rise to craniosynostosis and some other manifestations of Saethre\u2010Chotzen syndrome. We report on a family where a father and daughter carry an apparently balanced t(7;10)(p21.2;q21.2) translocation (de novo in the father) and have the Saethre\u2010Chotzen syndrome. These observations support the localization of the Saethre\u2010Chotzen gene to 7p21.2. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320470510","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:06:35Z","timestamp":1118495195000},"page":"633-636","source":"Crossref","is-referenced-by-count":38,"title":["Cytogenetic evidence that the Saethre\u2010Chotzen gene maps to 7p21.2"],"prefix":"10.1002","volume":"47","author":[{"given":"W.","family":"Reardon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. P.","family":"McManus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Summers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. M.","family":"Winter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400412"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.10.681"},{"key":"e_1_2_1_4_1","first-page":"97","article-title":"Eine eigenartige famili\u00e4re Entwicklungsst\u00f6rung. (Akrocephalosyndaktylie, Dystosis craniofacialis und Hypertelorismus)","volume":"55","author":"Chotzen F","year":"1932","journal-title":"Monatsschr Kinderheilkd"},{"key":"e_1_2_1_5_1","first-page":"413","volume-title":"Craniosynostosis: Diagnosis, Evaluation and Management","author":"Cohen MM","year":"1986"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450127"},{"key":"e_1_2_1_7_1","volume-title":"Mendelian Inheritance in Man","author":"McKusick VA","year":"1992"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01673869"},{"key":"e_1_2_1_9_1","volume-title":"Catalogue of Unbalanced Chromosome Aberrations in Man","author":"Schinzel A","year":"1984"},{"key":"e_1_2_1_10_1","first-page":"323","article-title":"Chromosome 7 short arm deletion, 7p21\u2192pter","volume":"74","author":"Schomig\u2010Spingler N","year":"1986","journal-title":"Hum Genet"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/352539a0"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320470510","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320470510","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T00:12:39Z","timestamp":1698279159000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320470510"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,10]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1993,10]]}},"alternative-id":["10.1002\/ajmg.1320470510"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320470510","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,10]]}}}