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Dose Dependence Effect in Biallelic WNT10A Variant-Associated Tooth Agenesis Phenotype

7 Dec 2022

Abstract excerpt

The goal of this study was to identify the pathogenic gene variants in patients with odonto-onycho-dermal dysplasia syndrome (OODD) or nonsyndromic tooth agenesis. Four unrelated individuals with tooth agenesis and their available family members were recruited. Peripheral blood was collected from four probands and five family members. Whole-exome sequencing (WES) and Sanger sequencing were used to identify the...

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PMID: 36553094
DOI: 10.3390/diagnostics12123087

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