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Article

A novel ENAM mutation causes hypoplastic amelogenesis imperfecta.

Oral diseases - 1 Sept 2022

Yu Shunlan, Zhang Chenying, Zhu Ce, Quan Junkang, Liu Dandan, Wang Xiaozhe, Zheng Shuguo

Abstract excerpt

OBJECTIVES: To identify the genetic cause of one Chinese family with hypoplastic amelogenesis imperfecta (AI) and explore the relationship between genotype and its phenotype. MATERIAL AND METHODS: One Chinese family with generalized hypoplastic AI was recruited. One deciduous tooth from the proband was subjected to scanning electron microscopy. Whole-exome sequencing was performed and identified mutation was...

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Amelogenesis Imperfecta
Bone and Dental Protein Studies
Dental Enamel Proteins
Extracellular Matrix Proteins
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Periodontal Regeneration and Treatments

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PMID: 33864320
DOI: 10.1111/odi.13877

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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