Article
Mutation analysis in patients with nonsyndromic tooth agenesis using exome sequencing.
Molecular genetics & genomic medicine - 1 Oct 2022
Yue Haitang, Liang Jia, Song Guangtai, Cheng Jing, Li Jiahui, Zhi Yusheng, Bian Zhuan, He Miao
Abstract excerpt
BACKGROUND: Tooth agenesis (TA) is a congenital abnormality that may present as syndromic or nonsyndromic. Considering its complex genetic aetiology, the aim of this study was to uncover the pathogenic mutants in patients with nonsyndromic TA and analyse the characteristics of these mutants. METHODS: Exome sequencing was performed to detect pathogenic variants in 72 patients from 43 unrelated families with...
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