Apparently synonymous substitutions in FGFR2affect splicing and result in mild Crouzon syndrome

<p style="text-align:justify;"> <b>Background:</b> Mutations of fibroblast growth factor receptor 2 (FGFR2) account for a higher proportion of genetic cases of craniosynostosis than any other gene, and are associated with a wide spectrum of severity of clinical problems....

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Detalles Bibliográficos
Main Authors: Fenwick, A, Goos, J, Rankin, J, Lord, H, Lester, T, Hoogeboom, A, Van Den Ouweland, A, Wall, SA, Mathijssen, I, Wilkie, A
Formato: Journal article
Idioma:English
Publicado: BioMed Central 2014