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

BMC oral health - 27 Jan 2024

Liu Yiting, Sun Jing, Zhang Caiqi, Wu Yi, Ma Siyuan, Li Xuechun, Wu Xiaoshan, Gao Qingping

Abstract excerpt

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 sequencing. METHODS: The clinical data of the patients and their mother were collected, and genomic DNA was extracted from...

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Anodontia
Ectodermal Dysplasia
Ectodermal Dysplasia 1, Anhidrotic
Mutation
Phenotype

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PMID: 38280992
DOI: 10.1186/s12903-024-03888-5
PMCID: PMC10822191

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