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Feb 2, 2023 - Journal of Applied Oral Science
Ren, Jiabao; Zhao, Ya; Yuan, Yunyun; Zhang, Jing; Ding, Yulin; Li, Meikang; An, Yilin; Chen, Wenjing; Zhang, Li; Liu, Boyu; Zheng, Shushen; Shen, Wenjing, 2023, "A novel PAX9 compound heterozygous variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants", https://doi.org/10.48331/scielodata.OMMQEH, SciELO Data, V1
It has been reported that >91.9% of non-syndromic tooth agenesis cases are caused by seven pathogenic genes. Objective: Here, we report novel heterozygous PAX9 variants in a Chinese family with non-syndromic oligodontia and summarize the reported genotype-phenotype relationship o... |
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Identification of a compound heterozygous PAX9 variant in a Chinese family with non-syndromic oligodontia. (a) The pedigree of the Chinese family. The black arrow indicates the proband. (b) DNA sequencing chromatograms of the family and TA cloning sequencing of the proband showin... |
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Dental characteristics of a Chinese family with non-syndromic oligodontia. a-d: (a) Facial characteristics of the proband; (b-c) Intraoral images; (d) Panoramic radiographs and schematic diagram of missing teeth; (e) Facial characteristics of the proband’s mother; (f-g) Intraoral... |
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Conservation and bioinformatics analysis and structural modeling of PAX9. (a) Schematic diagram of the wild-type PAX9 protein and the localization of the novel compound heterozygous PAX9 variant identified in this study. (b) Conservation analysis of PAX9 amino acid sequences in s... |
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Phenotype composition of the 160 patients reviewed. |
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Permanent tooth loss rate of the upper and lower jaws of NSO patients with PAX9 variants (n = 132) |
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Sanger sequencing result of the proband of PAX9 exon2(NM_001372076.1). |
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Sanger sequencing result of the proband of PAX9 exon4(NM_001372076.1). |