Article
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
Human molecular genetics - 1 Jun 1995
Oldridge M, Wilkie A O, Slaney S F, Poole M D, Pulleyn L J, Rutland P, Hockley A D, Wake M J, Goldin J H, Winter R M
Abstract excerpt
Craniosynostosis, which affects approximately 1 in 2000 children, is the result of the abnormal development and/or premature fusion of the cranial sutures. Studies of mutations in patients with craniosynostosis have shown that the family of fibroblast growth factor receptor genes are extremely important in the correct formation of the skull, and digits. Mutations in the third immunoglobulin domain of fibroblast...
Topics
- Amino Acid Sequence
- Base Sequence
- Craniofacial Dysostosis
- DNA
- DNA Mutational Analysis
- Exons
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation