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Expanding the genetic spectrum of tooth agenesis using whole-exome sequencing.

Clinical genetics - 1 Dec 2022

Yu Kang, Dou Jiaqi, Huang Wei, Wang Feng, Wu Yiqun

Abstract excerpt

Tooth agenesis is a high genetic heterogeneous disorder with more than 80 genes identified as associated molecular causes. The present study aimed to detect the possible pathogenic variants in a cohort of well-characterized probands with a clinical diagnosis of tooth agenesis. We performed whole-exome sequencing (WES) in 131 tooth agenesis patients with no previously identified molecular diagnosis. All the...

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PMID: 36071541
DOI: 10.1111/cge.14225

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