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October 1, 2025Journal of Indian Academy of Oral Medicine and RadiologyOpen Access

Identification of a Novel PTH1R Mutation in Primary Failure of Eruption: A Case Report and Therapeutic Perspectives

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Authors

SDSivani DarjeeASAdit SrivastavaSSSaumya Shukla

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Overview

Case report identifies a novel mutation in PTH1R linked to primary failure of eruption, suggesting further genetic evaluation.

Key Points

  • A novel heterozygous mutation in PTH1R was identified, contributing to primary failure of eruption.
  • Diagnosis of primary failure of eruption is critical and involves clinical assessment and genetic testing.
  • Differential diagnoses must include conditions like mechanical failure of eruption, which are distinct from PFE.
  • Testing for pathogenic variants in the PTH1R gene can enhance understanding and management of non-syndromic PFE.

Cite This Study

Darjee et al. (2025) studied this question.

synapsesocial.com/papers/68dd91c7fe798ba2fc49865chttps://doi.org/10.4103/jiaomr.jiaomr_148_25
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Mechanisms of primary failure of eruption: a new model of multidimensional framework2025
  2. 2Human diseases caused by homozygous PTH1R mutations2025
  3. 3A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1R2025
  4. 4Tooth Eruption Disorders from Delayed Eruption to Ectopic Eruption Management2025
  5. 5Expansion of Germline Variants in Primary Hyperparathyroidism: Fumarate Hydratase Deficiency as a Cause of Parathyroid Adenomas2026