Article
Four Novel PAX9 Variants and the PAX9-Related Non-Syndromic Tooth Agenesis Patterns.
International journal of molecular sciences - 24 Jul 2022
Liu Haochen, Liu Hangbo, Su Lanxin, Zheng Jinglei, Feng Hailan, Liu Yang, Yu Miao, Han Dong
Abstract excerpt
The purpose of this research was to investigate and identify PAX9 gene variants in four Chinese families with non-syndromic tooth agenesis. We identified pathogenic gene variants by whole-exome sequencing (WES) and Sanger sequencing and then studied the effects of these variants on function by bioinformatics analysis and in vitro experiments. Four novel PAX9 heterozygous variants were identified: two missense...
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