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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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)
Format: Book
Published: BMC, 2019-11-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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