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

• Main Authors: Cristina Grippaudo (Author), Isabella D'Apolito (Author), Concetta Cafiero (Author), Agnese Re (Author), Pietro Chiurazzi (Author), Sylvia A. Frazier-Bowers (Author)
• Format: Book
• Published: SpringerOpen, 2021-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 b...