Diagnostic value of exome and whole genome sequencing in craniosynostosis

Diagnostic value of exome and whole genome sequencing in craniosynostosis

<strong>Background.</strong> 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 genes have been associated with craniosynostosis, but only a minority of these are inclu...

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Hlavní autoři: Miller, K, Twigg, S, McGowan, S, Phipps, J, Fenwick, A, Johnson, D, Wall, S, Noons, P, Rees, K, Tidey, E, Craft, J, Taylor, J, Goos, J, Swagemakers, S, Mathijssen, I, van der Spek, P, Lord, H, Lester, T, Abid, N, Cilliers, D, Hurst, J, Morton, J, Sweeney, E, Weber, A, Wilson, L, Wilkie, A
Médium: Journal article
Vydáno: BMJ Publishing Group 2016

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