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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949653/
https://www.ncbi.nlm.nih.gov/pubmed/27158814
http://dx.doi.org/10.1002/humu.23010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949653/
https://www.ncbi.nlm.nih.gov/pubmed/27158814
http://dx.doi.org/10.1002/humu.23010

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