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Open AccessValidating clinical characteristics of primary failure of eruption (PFE) associated with PTH1R variants
Primary failure of eruption (PFE) is a hereditary condition, and linkage with variants in the PTH1R gene has been demonstrated in many cases. The clinical severity and expression of PFE is variable, and the genot...
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Article
Open AccessA novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report
Aim of this work was to describe a rare inheritance pattern of Primary Failure of Eruption (PFE) in a small family with incomplete penetrance of PFE and a novel nonsense PTH1R variant.
