Article
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
Nature - 15 Sept 1994
Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet J M, Maroteaux P, Le Merrer M, Munnich A
Abstract excerpt
Achondroplasia, the most common cause of chondrodysplasia in man (1 in 15,000 live births), is a condition of unknown origin characterized by short-limbed dwarfism and macrocephaly. More than 90% of cases are sporadic and there is an increased paternal age at the time of conception of affected in...
Topics
- Achondroplasia
- Amino Acid Sequence
- Animals
- Base Sequence
- Chromosomes, Human, Pair 4
- DNA Primers
- Female
- Humans
- Male
- Mice
- Molecular Sequence Data
- Mutation
- Pedigree