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Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses

PURPOSE: More than 60 different mutations have been identified to be causal in syndromic forms of craniosynostosis. The majority of these mutations occur in the fibroblast growth factor receptor 2 gene (FGFR2). The clinical management of syndromic craniosynostosis varies based on the particular caus...

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Hlavní autoři: Agochukwu, Nneamaka B., Solomon, Benjamin D., Muenke, Maximilian
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4101189/
https://ncbi.nlm.nih.gov/pubmed/22872262
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00381-012-1756-2
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