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....
Главные авторы: | Fenwick, A, Goos, J, Rankin, J, Lord, H, Lester, T, Hoogeboom, A, Van Den Ouweland, A, Wall, SA, Mathijssen, I, Wilkie, A |
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Формат: | Journal article |
Язык: | English |
Опубликовано: |
BioMed Central
2014
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