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Validating clinical characteristics of primary failure of eruption (PFE) associated with PTH1R variants

BACKGROUND: Primary failure of eruption (PFE) is a hereditary condition, and linkage with variants in the PTH1R gene has been demonstrated in many cases. The clinical severity and expression of PFE is variable, and the genotype–phenotype correlation remains elusive. Further, the similarity between s...

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Detalles Bibliográficos
Autores principales: Grippaudo, Cristina, D’Apolito, Isabella, Cafiero, Concetta, Re, Agnese, Chiurazzi, Pietro, Frazier-Bowers, Sylvia A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8666410/
https://www.ncbi.nlm.nih.gov/pubmed/34897565
http://dx.doi.org/10.1186/s40510-021-00387-z

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