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