Clinical variability in patients with Apert's syndrome - Université Paris Cité Accéder directement au contenu
Article Dans Une Revue Journal of Neurosurgery Année : 1999

Clinical variability in patients with Apert's syndrome

Résumé

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.
Fichier non déposé

Dates et versions

hal-02342818 , version 1 (01-11-2019)

Identifiants

Citer

Elisabeth Lajeunie, Rhoda Cameron, Vincent El Ghouzzi, Nathalie de Parseval, Pierre Journeau, et al.. Clinical variability in patients with Apert's syndrome. Journal of Neurosurgery, 1999, 90 (3), pp.443-447. ⟨10.3171/jns.1999.90.3.0443⟩. ⟨hal-02342818⟩
20 Consultations
0 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More