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The phenotype and genotype of PAX9 mutations causing tooth agenesis.

Clinical oral investigations - 1 Aug 2023

Jiang Cailing, Yu Kang, Shen Yihan, Wang Feng, Dai Qinggang, Wu Yiqun

Abstract excerpt

OBJECTIVES: The purpose of this study was to identify associations between PAX9 mutations and clinical features of non-syndromic tooth agenesis patients. MATERIALS AND METHODS: Non-syndromic tooth agenesis patients were found to have mutations by whole exome sequencing (WES). Additionally, conservation analysis and three-dimensional structure prediction were also applied to identify mutated proteins. RESULTS:...

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PMID: 37184613
DOI: 10.1007/s00784-023-05056-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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