Article
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
Journal of medical genetics - 1 Aug 1998
Passos-Bueno M R, Richieri-Costa A, Sertié A L, Kneppers A
Abstract excerpt
Apert syndrome, characterised by craniosynostosis, craniofacial anomalies, and symmetrical syndactyly of the digits (cutaneous and bony fusion), has been associated with two canonical mutations in the FGFR2 gene (S252W, P253R) in the great majority of cases. Since these two alterations have been...
Topics
- Acrocephalosyndactylia
- Child, Preschool
- Foot Deformities, Congenital
- Hand Deformities, Congenital
- Humans
- Mutation
- Receptor Protein-Tyrosine Kinases
- Receptor, Fibroblast Growth Factor, Type 2
- Receptors, Fibroblast Growth Factor
- Serine
- Syndactyly
- Tryptophan