An epistatic explanation

Elife. 2016 Sep 30:5:e21162. doi: 10.7554/eLife.21162.

Abstract

Interactions between two gene variants that rarely cause midline craniosynostosis on their own make the development of the disorder a certainty.

Keywords: chromosomes; craniofacial; craniosynostosis; de novo mutation; evolutionary biology; exome sequencing; genes; genomics; human genetics; incomplete penetrance.