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

• Główni autorzy: Cristina Grippaudo (Autor), Isabella D'Apolito (Autor), Concetta Cafiero (Autor), Agnese Re (Autor), Pietro Chiurazzi (Autor), Sylvia A. Frazier-Bowers (Autor)
• Format: Książka
• Wydane: SpringerOpen, 2021-12-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: 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...