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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Publicat a:Hum Mutat
Autors principals: Goos, Jacqueline A.C., Fenwick, Aimee L., Swagemakers, Sigrid M.A., McGowan, Simon J., Knight, Samantha J.L., Twigg, Stephen R.F., Hoogeboom, A. Jeannette M., van Dooren, Marieke F., Magielsen, Frank J., Wall, Steven A., Mathijssen, Irene M.J., Wilkie, Andrew O.M., van der Spek, Peter J., van den Ouweland, Ans M.W.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2016
Matèries:
Brief Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4949653/
https://ncbi.nlm.nih.gov/pubmed/27158814
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23010
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