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Article

Identification of a novel PTH1R variant in a family with primary failure of eruption.

BMC oral health - 21 Jul 2023

Zha Yunchen, Li Shushu, Yu Yue-Lin, Huang Zicheng, Zhang Hai-Ying, Kong Weidong

Abstract excerpt

BACKGROUND: Primary failure of tooth eruption (PFE) is a rare autosome genetic disorder that causes open bite. This work aimed to report a small family of PFE(OMIM: # 125,350) with a novel PTH1R variant. One of the patients has a rare clinical phenotype of the anterior tooth involved only. CASE PRESENTATION: The proband was a 13-year-old young man with an incomplete eruption of the right upper anterior teeth,...

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Identifiers

PMID: 37480042
DOI: 10.1186/s12903-023-03226-1
PMCID: PMC10362615

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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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