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Article

A novel missense mutation of LRP6 identified by whole-exome sequencing in a Chinese family with non-syndromic tooth agenesis.

Orthodontics & craniofacial research - 1 May 2021

Wang Huijuan, Liu Yi, Zheng Yafei, Zhao Xiaoxue, Lin Shiyi, Zhang Qin, Zhang Xiangyu

Abstract excerpt

OBJECTIVE: The aim of this study was to explore the genetic basis of non-syndromic tooth agenesis (TA) in a Chinese family of five individuals using whole-exome sequencing (WES) analysis. SETTINGS AND SAMPLE POPULATION: Five participants/Family-based study of a non-syndromic TA proband. METHODS: The proband, proband's mother and grandmother displayed congenital tooth deficiency. Genomic DNA was extracted from the...

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PMID: 32844563
DOI: 10.1111/ocr.12424

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