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.
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Li et al. (Tue,) studied this question.
www.synapsesocial.com/papers/69d893626c1944d70ce04663 — DOI: https://doi.org/10.1097/scs.0000000000012755
Zhifeng Li
Zhiyong Zhang
Journal of Craniofacial Surgery
Chinese Academy of Medical Sciences & Peking Union Medical College
Peking Union Medical College Hospital
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