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De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis

Non-syndromic craniosynostosis (NSC) is a frequent congenital malformation in which one or more cranial sutures fuse prematurely. Mutations causing rare syndromic craniosynostoses in humans and engineered mouse models commonly increase signaling of the Wnt, bone morphogenetic protein (BMP), or Ras/E...

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Détails bibliographiques
Publié dans:Proc Natl Acad Sci U S A
Auteurs principaux: Timberlake, Andrew T., Furey, Charuta G., Choi, Jungmin, Nelson-Williams, Carol, Loring, Erin, Galm, Amy, Kahle, Kristopher T., Steinbacher, Derek M., Larysz, Dawid, Persing, John A., Lifton, Richard P.
Format: Artigo
Langue:Inglês
Publié: National Academy of Sciences 2017
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5584457/
https://ncbi.nlm.nih.gov/pubmed/28808027
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1709255114
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