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Article

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

BMC oral health - 15 Nov 2019

Grippaudo Cristina, Cafiero Concetta, D'Apolito Isabella, Re Agnese, Genuardi Maurizio, Chiurazzi Pietro, Frazier-Bowers Sylvia A

Abstract excerpt

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 diagnosed with PFE using clinical and radiographic characteristics. DNA was extracted from the proband and his immediate...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31730001
DOI: 10.1186/s12903-019-0944-9
PMCID: PMC6858648

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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