A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report

• Main Authors: Cristina Grippaudo (Author), Concetta Cafiero (Author), Isabella D'Apolito (Author), Agnese Re (Author), Maurizio Genuardi (Author), Pietro Chiurazzi (Author), Sylvia A. Frazier-Bowers (Author)
• פורמט: ספר
• יצא לאור: BMC, 2019-11-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstract Background Aim of this work was to describe a rare inheritance pattern of Primary Failure of Eruption (PFE) in a small family with incomplete penetrance of PFE and a novel nonsense PTH1R variant. Case presentation The proband, a 26 year-old man with a significant bilateral open-bite, was di...