Article
FGF9 mutation causes craniosynostosis along with multiple synostoses.
Human mutation - 1 Nov 2017
Rodriguez-Zabala Maria, Aza-Carmona Miriam, Rivera-Pedroza Carlos I, Belinchón Alberta, Guerrero-Zapata Isabel, Barraza-García Jimena, Vallespin Elena, Lu Min, Del Pozo Angela, Glucksman Marc J, Santos-Simarro Fernando, Heath Karen E
Abstract excerpt
Craniosynostosis is commonly caused by mutations in fibroblast growth factor receptors (FGFRs), highlighting the essential role of FGF-mediated signaling in skeletal development. We set out to identify the molecular defect in a family referred for craniosynostosis and in whom no mutation was previously detected. Using next-generation sequencing, we identified a novel missense mutation in FGF9. Modeling based upon...
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