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Article

A novel mutation in GPR68 causes hypomaturation amelogenesis imperfecta.

Archives of oral biology - 1 Aug 2024

Yu Shunlan, Liu Dandan, Yan Changqing, Yuan Chao, Zhang Chenying, Zheng Shuguo

Abstract excerpt

OBJECTIVES: To identify the genetic cause of a Chinese family with hypomaturation amelogenesis imperfecta (AI) and to characterize the structure of GPR68 mutated enamel in order to develop a deeper understanding of the role of the GPR68 protein during the intricate process of amelogenesis. DESIGN: One Chinese family with generalized hypomaturation AI was recruited. Two of the third molars from the proband were...

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PMID: 38761453
DOI: 10.1016/j.archoralbio.2024.105991

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