Article
Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.
Journal of medical genetics - 1 Jan 1999
Lajeunie E, El Ghouzzi V, Le Merrer M, Munnich A, Bonaventure J, Renier D
Abstract excerpt
A recurrent point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene that converts proline 250 into arginine is commonly associated with coronal craniosynostosis and has allowed definition of a new syndrome on a molecular basis. Sixty-two patients with sporadic or familial forms of...
Topics
- Craniosynostoses
- Female
- Gene Expression
- Humans
- Male
- Pedigree
- Phenotype
- Point Mutation
- Protein-Tyrosine Kinases
- Radiography
- Receptor, Fibroblast Growth Factor, Type 3
- Receptors, Fibroblast Growth Factor
- Skull