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Eight EDA mutations in Chinese patients with tooth agenesis and genotype-phenotype analysis.

Oral diseases - 1 Oct 2024

Yu Kang, Sheng Yihan, Wang Feng, Yang Shuwen, Wan Futang, Lei Ming, Wu Yiqun

Abstract excerpt

OBJECTIVE: Tooth agenesis is a common craniofacial malformation, which is often associated with gene mutations. The purpose of this research was to investigate and uncover ectodysplasin A (EDA) gene variants in eight Chinese families affected with tooth agenesis. METHODS: Genomic DNA was extracted from tooth agenesis families and sequenced using whole-exome sequencing. The expression of ectodysplasin A1 (EDA1)...

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PMID: 38287639
DOI: 10.1111/odi.14878

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