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A novel mutation, Ala315Ser, in FGFR2: a gene–environment interaction leading to craniosynostosis?

✍ Scribed by Johnson, David; Wall, Steven A; Mann, Susan; Wilkie, Andrew OM

Book ID: 110024992
Publisher: Nature Publishing Group
Year: 2000
Tongue: English
Weight: 333 KB
Volume: 8
Category: Article
ISSN: 1018-4813
DOI: 10.1038/sj.ejhg.5200499

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## Abstract Craniosynostosis is a condition in which some or all of the sutures in the skull of an infant close prematurely. Fibroblast growth factor receptor 2 (FGFR2) mutations are a well‐known cause of craniosynostosis. Many syndromes that comprise craniosynostosis, such as Apert syndrome, Crouz

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