Identification of intragenic exon deletions and duplication of TCF12 by whole genome or targeted sequencing as a cause of TCF12-related craniosynostosis

Identification of intragenic exon deletions and duplication of TCF12 by whole genome or targeted sequencing as a cause of TCF12-related craniosynostosis

TCF12-related craniosynostosis can be caused by small heterozygous loss-of-function mutations in TCF12. Large intragenic rearrangements, however, have not been described yet. Here, we present the identification of four large rearrangements in TCF12 causing TCF12-related craniosynostosis. Whole genom...

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Bibliographic Details
Main Authors: Goos, J, Fenwick, A, Swagemakers, S, McGowan, S, Knight, S, Twigg, S, Hoogeboom, A, van Dooren, M, Magielsen, F, Wall, S, Mathijssen, I, Wilkie, A, van der Spek, P, van den Ouweland, A
Format: Journal article
Language:English
Published: Wiley 2016

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