A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report
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...
Main Authors: | Cristina Grippaudo, Concetta Cafiero, Isabella D’Apolito, Agnese Re, Maurizio Genuardi, Pietro Chiurazzi, Sylvia A. Frazier-Bowers |
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Format: | Article |
Language: | English |
Published: |
BMC
2019-11-01
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Series: | BMC Oral Health |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12903-019-0944-9 |
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