A novel PTH1R mutation causes primary failure of eruption via the cAMP-PI3K/AKT pathway

Abstract excerpt

Abstract Background Primary failure of eruption (PFE) is a rare disorder characterized by a posterior open bite. While mutations in the parathyroid hormone 1 receptor (PTH1R) gene have been demonstrated to cause PFE, the underlying mechanisms remain largely unknown. Methods Whole exome sequencing was conducted to identify PTH1R variants in a PFE family. MG63 cells that stably expressed the corresponding mutant...

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