Developmental BiologyPLoS GeneticsPeer-reviewed
RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome
Wan Ying Leong, Wai Lam Tung, WH Chui…·Catherine Hong Huan Hor
This study shows that RAB23 loss-of-function causes context-dependent ciliary dysfunction in Carpenter syndrome, linking it to ciliopathy features in specific cell types.