Genotype-phenotype pattern analysis of pathogenic PAX9 variants in Chinese Han families with non-syndromic oligodontia

Genotype-phenotype pattern analysis of pathogenic PAX9 variants in Chinese Han families with non-syndromic oligodontia

Background: Non-syndromic oligodontia is characterized by the absence of six or more permanent teeth, excluding third molars, and can have aesthetic, masticatory, and psychological consequences. Previous studies have shown that PAX9 is associated with autosomal dominant forms of oligodontia but the...

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Bibliographic Details
Main Authors: Jiabao Ren, Sifang Gan, Shushen Zheng, Meikang Li, Yilin An, Shuo Yuan, Xiuge Gu, Li Zhang, Yan Hou, Qingqing Du, Guozhong Zhang, Wenjing Shen
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Genetics
Subjects:
tooth agenesis
non-syndromic oligodontia
PAX9 gene
whole-exome sequencing (WES)
functional analysis
phenotype
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1142776/full

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