Scientific Publications
Science combined with clinical diagnostics enhances common knowledge to the benefit of the medical community. Explore our findings and stay informed about the latest discoveries.
A Homozygous Nonsense Variant in IFT52 Is Associated with a Human Skeletal Ciliopathy
Here we report the first human skeletal ciliopathy associated with a nonsense variant in IFT52, encoding an IFT-B core complex protein.
Loading...