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Article

Validating clinical characteristics of primary failure of eruption (PFE) associated with PTH1R variants

1 Dec 2021

Abstract excerpt

BACKGROUND: 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 genotype-phenotype correlation remains elusive. Further, the similarity between some eruption disorders that are not associated with PTH1R alterations is striking. To better understand the...

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PMID: 34897565
DOI: 10.1186/s40510-021-00387-z

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