Article
Splicing Defects and Cell Death Cause SF3B2-Linked Craniofacial Microsomia.
Journal of dental research - 1 Sept 2025
Rao S, Watt K E N, Maili L, Lamb M, Farrow E, Hassan H, Weaver K, Miller B, Dash S, Cox L L, Gallacher L, Kant S G, Gibson M, Pastinen T, Li D, Bhoj E J K, Zhu H, Zhang J, Zhang Y-B, Tan T Y, Trainor P A, Cox T C
Abstract excerpt
Craniofacial microsomia (CFM) is a genetically and phenotypically heterogeneous disorder characterized by hypoplasia of facial tissue that is often asymmetric. Affected tissues typically include the ears (external and internal), mandible, and maxilla, but various extracranial anomalies have also been reported. Loss-of-function variants in the SF3B2 gene have recently been reported in 8 cases of CFM, representing...
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