{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T08:48:59Z","timestamp":1780044539667,"version":"3.53.1"},"reference-count":10,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fetal Diagn Ther"],"published-print":{"date-parts":[[2009]]},"abstract":"<jats:p>&lt;i&gt;Objective:&lt;\/i&gt; Thanatophoric dysplasia type 1 (TD 1) is typically a lethal dwarfism. We report our findings of fibroblast growth factor receptor 3 &lt;i&gt;(FGFR3)&lt;\/i&gt; mutations in Chinese cases of TD 1. &lt;i&gt;Methods:&lt;\/i&gt; Ten cases of TD 1 were identified prenatally by ultrasound. The &lt;i&gt;FGFR3&lt;\/i&gt; gene was analyzed using direct DNA sequencing of the selected regions (exons 7, 10, 15, and 19) previously reported to contain mutations for TD 1. &lt;i&gt;Results:&lt;\/i&gt; A heterozygous C742T (R248C) mutation was found in 9 of the 10 cases. The remaining case was negative for mutations involved in exons 7, 10, 15 and 19. &lt;i&gt;Conclusion:&lt;\/i&gt; The results suggest that the R248C mutation may serve as the primarily targeted one of the &lt;i&gt;FGFR3&lt;\/i&gt; gene for rapid molecular diagnosis of TD 1.<\/jats:p>","DOI":"10.1159\/000238120","type":"journal-article","created":{"date-parts":[[2009,10,13]],"date-time":"2009-10-13T05:54:47Z","timestamp":1255413287000},"page":"90-92","source":"Crossref","is-referenced-by-count":3,"title":["&lt;i&gt;FGFR3&lt;\/i&gt; Gene Mutations in Chinese Cases of Thanatophoric Dysplasia Type 1"],"prefix":"10.1159","volume":"26","author":[{"given":"Yu","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong-Zhi","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2009,9,11]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.2214%2FAJR.08.1524"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1210%2Fer.21.1.23"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0395-321"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.32269"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007%2FBF02011909"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1196%2Fannals.1402.072"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1159%2F000170092"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1159%2F000132411"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.10092"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1006%2Fbbrc.1996.1495"}],"container-title":["Fetal Diagnosis and Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/238120","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/238120","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T21:51:01Z","timestamp":1745445061000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000238120"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009]]},"references-count":10,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2009,10,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000238120","archive":["Portico"],"relation":{},"ISSN":["1015-3837","1421-9964"],"issn-type":[{"value":"1015-3837","type":"print"},{"value":"1421-9964","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009]]}}}