Fibroblast growth factor receptor 3 and the human chondrodysplasias.

doi:10.1097/00008480-199708000-00021

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Article

Fibroblast growth factor receptor 3 and the human chondrodysplasias.

Current opinion in pediatrics - 1 Aug 1997

Horton W A

Abstract excerpt

Heterozygous mutations of the gene encoding the fibroblast growth factor receptor 3 (FGFR3) have been found in persons with achondroplasia, thanatophoric dysplasia, and hypochondroplasia. They exhibit considerable genetic homogeneity, and specific mutations strongly correlate with the clinical se...

Topics

Achondroplasia
Heterozygote
Humans
Mutation
Protein-Tyrosine Kinases
Receptor, Fibroblast Growth Factor, Type 3
Receptors, Fibroblast Growth Factor
Thanatophoric Dysplasia

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