Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Link
http://www.nature.com/articles/s41439-018-0014-x.pdf
Reference9 articles.
1. Wei, Q. et al. A Bayesian framework for de novo mutation calling in parents-offspring trios. Bioinformatics 31, 1375–1381 (2015).
2. Wang, K., Li, M. & Hakonarson, H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 38, e164 (2010).
3. Lek, M. et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature 536, 285–291 (2016).
4. Sharma, V. P. et al. Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nat. Genet. 45, 304–307 (2013).
5. Timberlake, A. T. et al. Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles. ELife 5, e20125 (2016).
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