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 ∼25% of craniosynostosis, whilst several additio...

Ausführliche Beschreibung