This study utilizes functional genomics to prioritize EDNRB, FGF3, and EPAS1 as high-confidence candidate genes for hemifacial microsomia. Our findings suggest a functional landscape where distinct genetic pathways converge to produce HFM-like phenotypes and validate TP53 and ESR2 as potential environmental susceptibility factors. These findings enable gene-targeted therapeutic strategies and prenatal risk assessment.
Li et al. (Tue,) studied this question.