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....

詳細記述

書誌詳細
主要な著者: Fenwick, A, Goos, J, Rankin, J, Lord, H, Lester, T, Hoogeboom, A, Van Den Ouweland, A, Wall, SA, Mathijssen, I, Wilkie, A
フォーマット: Journal article
言語:English
出版事項: BioMed Central 2014