Article
Genotype and phenotype in hypochondroplasia.
The Journal of pediatrics - 1 Jul 1998
Ramaswami U, Rumsby G, Hindmarsh P C, Brook C G
Abstract excerpt
Mutations in the tyrosine kinase domain of fibroblast growth factor receptor gene (FGFR3) have been described in some cases of hypochondroplasia (Hch). We screened 65 children with Hch diagnosed by clinical and radiologic criteria for 2 previously described mutations, C1620A and C1620C in FGFR3;...
Topics
- Achondroplasia
- Age of Onset
- Child
- Child, Preschool
- Genotype
- Humans
- Mutation
- Osteochondrodysplasias
- Phenotype
- Protein-Tyrosine Kinases
- Receptor, Fibroblast Growth Factor, Type 3
- Receptors, Fibroblast Growth Factor