Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants

Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants

Abstract Studies have reported that >91.9% of non-syndromic tooth agenesis cases are caused by seven pathogenic genes. Objective To report novel heterozygous PAX9 variants in a Chinese family with non-syndromic oligodontia and summarize the reported genotype-phenotype relationship of PAX9 varia...

Full description

Bibliographic Details
Main Authors: Jiabao REN, Ya ZHAO, Yunyun YUAN, Jing ZHANG, Yulin DING, Meikang LI, Yilin AN, Wenjing CHEN, Li ZHANG, Boyu LIU, Shushen ZHENG, Wenjing SHEN
Format: Article
Language:English
Published: University of São Paulo 2023-03-01
Series:Journal of Applied Oral Science
Subjects:
Tooth agenesis
Non-syndromic oligodontia
Paired Box 9 Protein
Whole-exome sequencing
Genotype-phenotype
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1678-77572023000100408&lng=en&tlng=en

Internet

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1678-77572023000100408&lng=en&tlng=en

Similar Items