A novel PAX9 mutation found in a Chinese patient with hypodontia via whole exome sequencing
Author:
Affiliation:
1. Department of Oral and Maxillofacial Surgery, School of Stomatology Tianjin Medical University Tianjin China
2. Department of Pediatric Dentistry, School of Stomatology Tianjin Medical University Tianjin China
Funder
The 13th five-year plan of Stomatological Hospital of Tianjin Medical University
The Key Project for Tianjin Health Industry
Publisher
Wiley
Subject
General Dentistry,Otorhinolaryngology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/odi.12982
Reference36 articles.
1. Candidate Gene Analysis of Tooth Agenesis Identifies Novel Mutations in Six Genes and Suggests Significant Role for WNT and EDA Signaling and Allele Combinations
2. Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes
3. Novel missense mutation in PAX9 gene associated with familial tooth agenesis
4. PAX9 gene mutations and tooth agenesis: A review
5. Is there a link between ovarian cancer and tooth agenesis?
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1. Identification of potential key variants in mandibular premolar hypodontia through whole-exome sequencing;Frontiers in Genetics;2023-09-08
2. Genotype-phenotype pattern analysis of pathogenic PAX9 variants in Chinese Han families with non-syndromic oligodontia;Frontiers in Genetics;2023-03-28
3. 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;2023
4. Detection of novel variant and functional study in a Chinese family with nonsyndromic oligodontia;Oral Diseases;2022-05-31
5. Patterns of molar agenesis associated with p.P20L and p.R77Q variants in PAX9;European Journal of Oral Sciences;2022-02-19
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