NeuroscienceHuman MutationPeer-reviewed
The Charcot-Marie-Tooth Neuropathy (CMTX3) Complex Structural Variation Causes Differential SOX3 Spatiotemporal Expression
Alexandra Boyling, Anthony N. Cutrupi, D. Li…·Marina L. Kennerson
The paper identifies a 78-kb insertion in the CMTX3 locus that causes spatiotemporal dysregulation of SOX3 expression in neuronal differentiation.
DOI 10.1155/humu/4225263