Article
Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption.
Clinical oral investigations - 1 Jan 2014
Roth Helmut, Fritsche Lars G, Meier Christoph, Pilz Peter, Eigenthaler Martin, Meyer-Marcotty Philipp, Stellzig-Eisenhauer Angelika, Proff Peter, Kanno Cláudia M, Weber Bernhard Hf
Abstract excerpt
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 mutations, we...
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