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: Tags: Open access, Molecular genetics, Calcium and bone Developmental defects Source Type: research