Article
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
Nature genetics - 1 Sept 1994
Reardon W, Winter R M, Rutland P, Pulleyn L J, Jones B M, Malcolm S
Abstract excerpt
Crouzon syndrome is an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis) and maps to chromosome 10q25-q26. We now present evidence that mutations in the fibroblast growth factor receptor 2 gene (FGFR2) cause Crouzon syndrome. We found SSCP variations...
Topics
- Base Sequence
- Chromosomes, Human, Pair 10
- Craniofacial Dysostosis
- Exons
- Female
- Humans
- Lod Score
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymorphism, Single-Stranded Conformational