Diagnostic value of exome and whole genome sequencing in craniosynostosis
KA Miller, SRF Twigg, SJ McGowan… - Journal of medical …, 2017 - jmg.bmj.com
Background Craniosynostosis, the premature fusion of one or more cranial sutures, occurs
in∼ 1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 …
in∼ 1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 …