Author

Jieming Zhang

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Case report Aug 2026

Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia

SF3B2’s role as a loss-of-function disease gene is reinforced and the importance of variant-specific molecular characterization in understanding CFM is highlighted, as well as the importance of variant-specific molecular characterization in understanding functional consequences.

Dan Xia, Xiaofang Peng, Zi-Hao Deng et al. · Human Genetics · 0 citations