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

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...

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Bibliographic Details
Main Authors: Cristina Grippaudo, Concetta Cafiero, Isabella D’Apolito, Agnese Re, Maurizio Genuardi, Pietro Chiurazzi, Sylvia A. Frazier-Bowers
Format: Article
Language:English
Published: BMC 2019-11-01
Series:BMC Oral Health
Subjects:
Primary failure of eruption
Orthodontics
PTH1R gene
Nonsense variant
Incomplete penetrance
Case report
Online Access:http://link.springer.com/article/10.1186/s12903-019-0944-9

Internet

http://link.springer.com/article/10.1186/s12903-019-0944-9

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