{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T02:53:07Z","timestamp":1781578387635,"version":"3.54.5"},"reference-count":8,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2004,1,1]],"date-time":"2004-01-01T00:00:00Z","timestamp":1072915200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2004,1,1]],"date-time":"2004-01-01T00:00:00Z","timestamp":1072915200000},"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":[[2004]]},"abstract":"<jats:p>&lt;i&gt;Objective:&lt;\/i&gt; The role of the human fibroblast growth factor receptor (FGFR) gene family in current prenatal diagnosis and management of craniosynostosis syndromes and skeletal dysplasias is discussed. &lt;i&gt;Method:&lt;\/i&gt; We present the antenatal ultrasound findings, diagnosis, and management of 2 cases of Apert syndrome before and after molecular prenatal diagnosis was available. &lt;i&gt;Results and Conclusion:&lt;\/i&gt; Discovery of mutations in FGFR genes now allows the definitive antenatal diagnosis of Apert syndrome, other craniosynostosis syndromes, and skeletal dysplasias.<\/jats:p>","DOI":"10.1159\/000075135","type":"journal-article","created":{"date-parts":[[2004,2,6]],"date-time":"2004-02-06T10:57:01Z","timestamp":1076065021000},"page":"127-130","source":"Crossref","is-referenced-by-count":14,"title":["Prenatal Diagnosis of Apert Syndrome"],"prefix":"10.1159","volume":"19","author":[{"given":"Wendy F.","family":"Hansen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asha","family":"Rijhsinghani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanley","family":"Grant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerome","family":"Yankowitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2004,2,13]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2915"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-165"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.16.8380"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/ng0596-48"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1086\/302245"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.570208.x"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.1999.14060426.x"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(200003)20:3<254::AID-PD775>3.3.CO;2-E"}],"container-title":["Fetal Diagnosis and Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/75135","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/75135","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:59:29Z","timestamp":1745467169000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000075135"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004]]},"references-count":8,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2004,4,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000075135","archive":["Portico"],"relation":{},"ISSN":["1015-3837","1421-9964"],"issn-type":[{"value":"1015-3837","type":"print"},{"value":"1421-9964","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004]]}}}