Open access
Jun 2026
The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes
This is the first study to show that the novel C-terminus of DVL1 is sufficient to interfere with the function of DVL1 protein expressed from the normal allele in heterozygous, autosomal dominant RS.
Shruti S. Tophkhane, G. Akarsu, S. Gignac et al.
· Human Molecular Genetics · 0 citations