Article
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
Journal of medical genetics - 1 Aug 1997
Reardon W, Wilkes D, Rutland P, Pulleyn L J, Malcolm S, Dean J C, Evans R D, Jones B M, Hayward R, Hall C M, Nevin N C, Baraister M, Winter R M
Abstract excerpt
Several mutations involving the fibroblast growth factor receptor (FGFR) gene family have been identified in association with phenotypically distinct forms of craniosynostosis. One such point mutation, resulting in the substitution of proline by arginine in a critical region of the linker region between the first and second immunoglobulin-like domains, is associated with highly specific phenotypic consequences in...
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