Ontology highlight
ABSTRACT:
SUBMITTER: Grippaudo C
PROVIDER: S-EPMC6858648 | biostudies-literature | 2019 Nov
REPOSITORIES: biostudies-literature
Grippaudo Cristina C Cafiero Concetta C D'Apolito Isabella I Re Agnese A Genuardi Maurizio M Chiurazzi Pietro P Frazier-Bowers Sylvia A SA
BMC oral health 20191115 1
<h4>Background</h4>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.<h4>Case presentation</h4>The proband, a 26 year-old man with a significant bilateral open-bite, was diagnosed with PFE using clinical and radiographic characteristics. DNA was extracted from the proband and his immediate family using buccal swabs and the entire PTH1R coding sequence was analyzed ...[more]