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Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome

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Renier, Dominique | El-Ghouzzi, V | Bonaventure, Jacky | Le Merrer, Martine | Lajeunie, Elizabeth | El Ghouzzi, Vincent

Edité par CCSD ; American Association of Neurological Surgeons -

International audience. A recurrent point mutation in the fibroblast growth factor receptor 3 gene that converts proline 250 into arginine has been reported recently in cases of apparently nonsyndromic coronal craniosynostosis. The goal of the present study was to examine the phenotype of patients in whom this mutation was present, to determine the prevalence of the condition, and to assess the functional and the morphological outcome of the surgically treated patients.

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