Article
Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia.
Acta paediatrica (Oslo, Norway : 1992). Supplement - 1 Oct 1996
Bonaventure J, Rousseau F, Legeai-Mallet L, Le Merrer M, Munnich A, Maroteaux P
Abstract excerpt
The mapping of the achondroplasia locus to the short arm of chromosome 4 and the subsequent identification of a recurrent missense mutation (Gly380Arg) in the gene encoding fibroblast growth factor receptor 3 (FGFR-3) has been followed by the detection of common FGFR-3 mutations in two clinically related disorders: thanatophoric dysplasia (TD; types I and II) and hypochondroplasia. The relative clinical...
Topics
- Achondroplasia
- Humans
- Mutation
- Osteochondrodysplasias
- Protein-Tyrosine Kinases
- Radiography
- Receptor, Fibroblast Growth Factor, Type 3
- Receptors, Fibroblast Growth Factor
- Thanatophoric Dysplasia