An epistatic explanation.
Interactions between two gene variants that rarely cause midline craniosynostosis on their own make the development of the disorder a certainty.
Department of Pediatrics, The University of Texas Medical School at Houston, Houston, United States.
Yoshihiro
Y
Komatsu
Department of Biologic and Materials Sciences, School of Dentistry, University of Michigan, Ann Arbor, United States.
Yuji
Y
Mishina
chromosomes; craniofacial; craniosynostosis; de novo mutation; evolutionary biology; exome sequencing; genes; genomics; human genetics; incomplete penetrance
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