IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans
Zeineb Bakey, Oscar A. Cabrera, Julia Hoefele, Dinu Antony, Kaman Wu, Michael W. Stuck, Dimitra Micha, Thibaut Eguether, Abigail O. Smith, Nicole N. van der Wel, Matias Wagner, Lara I. Strittmatter, Philip L. Beales, Julie A. Jonassen, Isabelle Thiffault, , Gregory J. Pazour
This study identifies IFT74 variants causing skeletal ciliopathy and motile cilia defects in humans and mice, revealing functional differences between motile and primary cilia.
PLoS Genetics · Jun 14, 2023Peer-reviewedGenetic & Genomic Medicine