Diagnostic value of exome and whole genome sequencing in craniosynostosis
Conclusions
This substantial genetic heterogeneity, and the multiple actionable mutations identified, emphasises the benefits of exome/whole genome sequencing to identify causal mutations in craniosynostosis cases for which routine clinical testing has yielded negative results.
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Miller, K. A., Twigg, S. R. F., McGowan, S. J., Phipps, J. M., Fenwick, A. L., Johnson, D., Wall, S. A., Noons, P., Rees, K. E. M., Tidey, E. A., Craft, J., Taylor, J., Taylor, J. C., Goos, J. A. C., Swagemakers, S. M. A., Mathijssen, I. M. J., van der Sp Tags: Open access, Molecular genetics, Calcium and bone Developmental defects Source Type: research