Novel PAX9 Stop Mutation Associated With Selective Tooth Agenesis and Variable Expressivity in an Austrian‐Hungarian Family

Here, we describe a novel heterozygous PAX9 stop mutation (c.576G>A; p.Trp192*) causing selective tooth agenesis in a family with three affected members across two generations. Phenotypes show marked intrafamilial variability, including oligodontia with anterior tooth involvement, shape abnormalities, and deciduous dentition disruption.