Identification of a novel PTH1R variant in a family with primary failure of eruption
Abstract 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. C...
Main Authors: | Yunchen Zha, Shushu Li, Yue-lin Yu, Zicheng Huang, Hai-ying Zhang, Weidong Kong |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2023-07-01
|
Series: | BMC Oral Health |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12903-023-03226-1 |
Similar Items
-
A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report
by: Cristina Grippaudo, et al.
Published: (2019-11-01) -
Validating clinical characteristics of primary failure of eruption (PFE) associated with PTH1R variants
by: Cristina Grippaudo, et al.
Published: (2021-12-01) -
Primary failure of eruption (PFE) - a systematic literature review
by: Hubert Nieścior, et al.
Published: (2022-08-01) -
Primary failure of eruption (PFE): a systematic review
by: Marcel Hanisch, et al.
Published: (2018-03-01) -
Rare Case of First Permanent Molar Primary Failure of Eruption with Agenesis of Premolars
by: Arina Vinereanu, et al.
Published: (2024-01-01)