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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Detalles Bibliográficos
Autores principales: Grippaudo, Cristina, Cafiero, Concetta, D’Apolito, Isabella, Re, Agnese, Genuardi, Maurizio, Chiurazzi, Pietro, Frazier-Bowers, Sylvia A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6858648/
https://www.ncbi.nlm.nih.gov/pubmed/31730001
http://dx.doi.org/10.1186/s12903-019-0944-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6858648/
https://www.ncbi.nlm.nih.gov/pubmed/31730001
http://dx.doi.org/10.1186/s12903-019-0944-9

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