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

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 PRES...

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Detalles Bibliográficos
Autores principales: Zha, Yunchen, Li, Shushu, Yu, Yue-lin, Huang, Zicheng, Zhang, Hai-ying, Kong, Weidong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10362615/
https://www.ncbi.nlm.nih.gov/pubmed/37480042
http://dx.doi.org/10.1186/s12903-023-03226-1