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Clinical variability in patients with Apert's syndrome

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Lajeunie, Elisabeth | Cameron, Rhoda | El Ghouzzi, Vincent | de Parseval, Nathalie | Journeau, Pierre | Gonzales, Marie | Delezoide, Anne-Lise | Bonaventure, Jacky | Le Merrer, Martine | Renier, Dominique

Edité par CCSD ; American Association of Neurological Surgeons -

International audience. Apert's syndrome is characterized by faciocraniosynostosis and severe bony and cutaneous syndactyly of all four limbs. The molecular basis for this syndrome appears remarkably specific: two adjacent amino acid substitutions (either S252W or P253R) occurring in the linking region between the second and third immunoglobulin domains of the fibroblast growth factor receptor (FGFR)2 gene. The goal of this study was to examine the phenotype/genotype correlations in patients with Apert's syndrome.

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