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Keywords exon duplication, intragenic exon deletion, rearrangements, TCF12-related craniosynostosis
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Journal Human Mutation
Goos, J.A.C, Fenwick, A.L, Swagemakers, S.M.A, McGowan, S.J, Knight, S.J.L. (Samantha J.L.), Twigg, S.R.F, … van den Ouweland, A.M.W. (2016). Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis. Human Mutation, 37(8), 732–736. doi:10.1002/humu.23010