Estimation of PEX1-mediated Zellweger spectrum disorder births and population prevalence by population genetics modeling

Notably, our model indicates that a significant proportion of patients with intermediate/mild phenotype may go unrecognized by current diagnostic practices. This diagnosis independent model of patient number estimates provides additional insights into the broad spectrum of <i>PEX1</i>-ZSD on a more global scale and can be used to inform health care strategies for these patients.