Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.

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 bet...

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Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: 1997
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051023/
https://ncbi.nlm.nih.gov/pubmed/9279753
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