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A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report
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...
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| Publicado no: | BMC Oral Health |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6858648/ https://ncbi.nlm.nih.gov/pubmed/31730001 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12903-019-0944-9 |
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