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Article

New Insight into the genotype-phenotype correlation of PTH1R variants and primary failure of tooth eruption on an Italian Cohort.

European journal of human genetics : EJHG - 1 Nov 2024

Modafferi Clarissa, Tabolacci Elisabetta, Lo Vecchio Filomena, Cassano Ilaria, Bertozzi Roberto, Fargnoli Arcangelo, Cafiero Concetta, Lo Cascio Ettore, Arcovito Alessandro, Grippaudo Cristina, Chiurazzi Pietro

Abstract excerpt

Primary failure of tooth eruption (PFE) is an autosomal dominant disease with penetrance defect. While the clinical phenotype is relatively well-defined since the 70 s of the last centuries, much more need to be clarified about the genetic causes of this condition. In our previous paper we established clinical criteria to better identify PFE patients carrying PTH1R gene variants. We examined a new cohort of 32...

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Source

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Identifiers

PMID: 39327493
DOI: 10.1038/s41431-024-01691-y
PMCID: PMC11576756

Genes

PTH1R

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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