{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T22:00:27Z","timestamp":1761948027603},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T00:00:00Z","timestamp":1416873600000},"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":[[2015,1]]},"abstract":"<jats:sec><jats:label \/><jats:p>Craniosynostosis is a congenital anomaly that can occur as an isolated condition or as part of a syndrome. Although several genes are known to cause syndromic craniosynostosis, only 24% can be attributed to known genes. Therefore, it is likely that more mutations and other genes are involved. We present the identification of a novel point mutation in fibroblast growth factor receptor 2 (<jats:italic>FGFR2)<\/jats:italic>, c.812G&gt;T, p.(Gly271Val) or c.1851G&gt;C, p.(Leu617Phe). Furthermore, we describe a mutation that has been identified just recently, c.812G&gt;T, (p.Gly271Val) or c.1851G&gt;C, (p.Leu617Phe). In addition, we describe findings from a sequence analysis of all coding exons and exon\/intron boundaries of <jats:italic>FGFR2<\/jats:italic> performed on 124 patients with syndromic craniosynostosis. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36827","type":"journal-article","created":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T20:54:55Z","timestamp":1416948895000},"page":"123-127","source":"Crossref","is-referenced-by-count":7,"title":["A novel mutation in <i>FGFR2<\/i>"],"prefix":"10.1002","volume":"167","author":[{"given":"Jacqueline A. C.","family":"Goos","sequence":"first","affiliation":[{"name":"Department of Plastic and Reconstructive Surgery and Hand Surgery Erasmus MC University Medical Center Rotterdam the Netherlands"},{"name":"Department of Bioinformatics Erasmus MC University Medical Center Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ans M. W.","family":"van den Ouweland","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC University Medical Center Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sigrid M. A.","family":"Swagemakers","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics Erasmus MC University Medical Center Rotterdam the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annemieke J. M. 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