Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia

• Main Authors: Yiting Liu (Author), Jing Sun (Author), Caiqi Zhang (Author), Yi Wu (Author), Siyuan Ma (Author), Xuechun Li (Author), Xiaoshan Wu (Author), Qingping Gao (Author)
• Format: Book
• Published: BMC, 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background The aim of this study was to analyse the differences in the phenotypes of missing teeth between a pair of brothers with hypohidrotic ectodermal dysplasia (HED) and to investigate the underlying mechanism by comparing the mutated gene loci between the brothers with whole-exome seq...