SMAD6 variants in nonsyndromic craniosynostosis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-023-01317-9.pdf
Reference16 articles.
1. Twigg SR, Wilkie AO. A genetic-pathophysiological framework for craniosynostosis. Am J Hum Genet. 2015;97:359–77. https://doi.org/10.1016/j.ajhg.2015.07.006.
2. Di Rocco FRM, Verlut I, Szathmari A, Aurélien Beuriat P, Chatron N, et al. Clinical interest of molecular study in cases of isolated midline craniosynostosis. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-023-01295-y.
3. Wu RT, Timberlake AT, Abraham PF, Gabrick KS, Lu X, Peck CJ, et al. SMAD6 genotype predicts neurodevelopment in nonsyndromic craniosynostosis. Plast Reconstr Surg. 2020;145:117e–25e. https://doi.org/10.1097/PRS.0000000000006319.
4. Timberlake AT, Persing JA. Genetics of nonsyndromic craniosynostosis. Plast Reconstr Surg. 2018;141:1508–16. https://doi.org/10.1097/PRS.0000000000004374.
5. Timberlake AT, Furey CG, Choi J, Nelson-Williams C, Yale Center for Genome Analysis, Loring E, et al. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. Proc Natl Acad Sci USA 2017. https://doi.org/10.1073/pnas.1709255114.
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