News for Healthier Living
Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance
 Through genetic analysis of a three-generation family with craniofacial microsomia, this study reports the co-segregation of two novel mutations in EYA3 and EFTUD2, providing new case clues for the complex genetic mechanism of craniofacial microsomia. The study not only supports the possibility of digenic inheritance involved in the pathogenesis of this disease but also reveals the synergistic effect of related genes in craniofacial development through functional network analysis, which helps to deepen the understanding of the molecular basis of disease phenotypic variation and genetic heterogeneity.
September 24, 2025
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