{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T02:39:58Z","timestamp":1789871998502,"version":"4.0.1"},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,9,12]],"date-time":"2005-09-12T00:00:00Z","timestamp":1126483200000},"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":[[2005,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fibroblast growth factor receptor 2 (<jats:italic>FGFR2<\/jats:italic>) mutations are associated with syndromic and non\u2010syndromic craniosynostoses. More recently it has been recognized that FGFR2 may have a role in the development of the anterior chamber of the eye following the finding of a specific <jats:italic>FGFR2<\/jats:italic> mutation (p.Ser351Cys, c.1231 C\u2009\u2192\u2009G) with anterior chamber dysgenesis. Affected patients had a severe craniofacial phenotype and clinical course. A child with a different <jats:italic>FGFR2<\/jats:italic> mutation (p.Ala344Ala, c1032 G\u2009\u2192\u2009A heterozygote), premature fusion of the sagittal suture, and an Axenfeld\u2013Rieger anomaly but otherwise normal clinical course is reported. The case provides further evidence that FGFR2 has a role in anterior chamber embryogenesis. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30944","type":"journal-article","created":{"date-parts":[[2005,9,13]],"date-time":"2005-09-13T00:16:41Z","timestamp":1126570601000},"page":"278-281","source":"Crossref","is-referenced-by-count":14,"title":["Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation"],"prefix":"10.1002","volume":"138A","author":[{"given":"Emma","family":"McCann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen 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