Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
A dozen years have passed since the first genetic lesion was identified in a family with craniosynostosis, the premature fusion of the cranial sutures. Subsequently, mutations in the FGFR2, FGFR3, TWIST1, and EFNB1 genes have been shown to account for approximately 25% of craniosynostosis, whilst se...
主要な著者: | Wilkie, A, Bochukova, E, Hansen, R, Taylor, I, Rannan-Eliya, S, Byren, J, Wall, SA, Ramos, L, Venâncio, M, Hurst, J, O'rourke, A, Williams, L, Seller, A, Lester, T |
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フォーマット: | Journal article |
言語: | English |
出版事項: |
2007
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