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

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 variants. METHO...

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Detalles Bibliográficos
Autores principales: Jiabao, REN, ZHAO, Ya, YUAN, Yunyun, ZHANG, Jing, DING, Yulin, Meikang, LI, Yilin, AN, Wenjing, CHEN, ZHANG, Li, Boyu, LIU, ZHENG, Shushen, SHEN, Wenjing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Faculdade De Odontologia De Bauru - USP 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10065762/
https://www.ncbi.nlm.nih.gov/pubmed/36995881
http://dx.doi.org/10.1590/1678-7757-2022-0403