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Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption

Roth, Helmut ; Fritsche, Lars G. ; Meier, Christoph ; Pilz, P. ; Eigenthaler, M. ; Meyer-Marcotty, P. ; Stellzig-Eisenhauer, A. ; Proff, Peter ; Kanno, C. M. ; Weber, Bernhard H. F.



Abstract

OBJECTIVES: Primary failure of tooth eruption (PFE) is a rare autosomal-dominant disease characterized by severe lateral open bite as a consequence of incomplete eruption of posterior teeth. Heterozygous mutations in the parathyroid hormone 1 receptor (PTH1R) gene have been shown to cause PFE likely due to protein haploinsufficiency. To further expand on the mutational spectrum of PFE-associated ...

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