Article
Negative autoregulation of fibroblast growth factor receptor 2 expression characterizing cranial development in cases of Apert (P253R mutation) and Pfeiffer (C278F mutation) syndromes and suggesting a basis for differences in their cranial phenotypes.
Journal of neurosurgery - 1 Oct 2001
Britto J A, Moore R L, Evans R D, Hayward R D, Jones B M
Abstract excerpt
OBJECT: Heterogeneous mutations in the fibroblast growth factor receptor 2 gene (FGFR2) cause a range of craniosynostosis syndromes. The specificity of the Apert syndrome-affected cranial phenotype reflects its narrow mutational range: 98% of cases of Apert syndrome result from an Ser252Trp or Pro253Arg mutation in the immunoglobulin-like (Ig)IIIa extracellular subdomain of FGFR2. In contrast, a broad range of...
Topics
- Acrocephalosyndactylia
- Aging
- Embryonic and Fetal Development
- Fetus
- Homeostasis
- Humans
- Infant
- Mutation
- Osteogenesis
- Phenotype
- Receptor Protein-Tyrosine Kinases
- Receptor, Fibroblast Growth Factor, Type 1