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A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
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A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet. 1997 Mar; 60(3):555-64.
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PubMed
subject areas
Adult
Adult
Child
Child
Chromosomes, Human, Pair 4
Chromosomes, Human, Pair 4
Craniosynostoses
Craniosynostoses
Female
Female
Foot Deformities, Congenital
Foot Deformities, Congenital
Hand Deformities, Congenital
Hand Deformities, Congenital
Humans
Humans
Male
Male
Pedigree
Pedigree
Point Mutation
Point Mutation
Protein-Tyrosine Kinases
Protein-Tyrosine Kinases
Radiography
Radiography
Receptor, Fibroblast Growth Factor, Type 3
Receptor, Fibroblast Growth Factor, Type 3
Receptors, Fibroblast Growth Factor
Receptors, Fibroblast Growth Factor
Syndrome
Syndrome