Article
Genotype phenotype correlation in achondroplasia and hypochondroplasia.
The Journal of bone and joint surgery. British volume - 1 Nov 1998
Matsui Y, Yasui N, Kimura T, Tsumaki N, Kawabata H, Ochi T
Abstract excerpt
Recent studies of the fibroblast growth factor receptor 3 (FGFR3) gene have established that achondroplasia and hypochondroplasia are allelic disorders of different mutations. To determine whether the genotype could be distinguished on the basis of the phenotype, we analysed height, arm span, and...
Topics
- Achondroplasia
- Adolescent
- Adult
- Anthropometry
- Child
- Child, Preschool
- Female
- Fibroblast Growth Factors
- Genotype
- Humans
- Male
- Mutation
- Osteochondrodysplasias
- Phenotype
- Protein-Tyrosine Kinases
- Radiography
- Receptor, Fibroblast Growth Factor, Type 3
- Receptors, Fibroblast Growth Factor