Article
Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants.
Journal of applied oral science : revista FOB - 1 Jan 2023
Ren Jiabao, Zhao Ya, Yuan Yunyun, Zhang Jing, Ding Yulin, Li Meikang, An Yilin, Chen Wenjing, Zhang Li, Liu Boyu, Zheng Shushen, Shen Wenjing
Abstract excerpt
OBJECTIVE: Studies have reported that >91.9% of non-syndromic tooth agenesis cases are caused by seven pathogenic genes. To report novel heterozygous PAX9 variants in a Chinese family with non-syndromic oligodontia and summarize the reported genotype-phenotype relationship of PAX9 variants. METHODOLOGY: We recruited 28 patients with non-syndromic oligodontia who were admitted to the Hospital of Stomatology Hebei...
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