Article
Orodental malformations associated with human MSX1 sequence variants.
Journal of the American Dental Association (1939) - 1 Jun 2024
Wang Yin-Lin, Chu Kuan-Yu, Hsieh Ting-Feng, Yao Chung-Chen Jane, Lin Chia-Hui, Lee Zhe-Hao, Wang Shih-Kai
Abstract excerpt
BACKGROUND: MSX1 sequence variants have been known to cause human tooth agenesis (TA) with or without orofacial clefts. However, their roles during the whole processes of tooth development are not fully understood. This study aimed to characterize a 4-membered family with TA carrying a novel MSX1 pathogenic variant and investigate the disease mechanism. METHODS: The authors conducted whole exome analysis to...
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