Developmental BiologybioRxivPreprint
Koolen-de Vries Syndrome causal gene KANSL1 is required for motile ciliogenesis
James D. Schmidt, Ananya Terala, Kate E. McCluskey…·Helen Rankin Willsey
This study shows that KANSL1 mutations cause ciliary defects in KdVS patients, linking the gene to ciliogenesis and neurodevelopmental features.