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Differential diagnosis of primary failure of eruption (PFE) with and without evidence of pathogenic mutations in the PTHR1 gene

Pilz, P. ; Meyer-Marcotty, P. ; Eigenthaler, M. ; Weber, Bernhard H. F. ; Stellzig-Eisenhauer, A.



Abstract

Background Primary failure of eruption (PFE) may be associated with pathogenic mutations in the PTHR1 gene. It has numerous manifestations and is characterized by severe posterior open bite. However, there are also phenotypically similar types of eruption anomalies not associated with a known pathogenic PTHR1 mutation. The purpose of this study was to evaluate whether a distinction can be made ...

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