Publication
Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy
Abigail R. Moye, Caitlyn L. McCafferty, Siying Lin, Ji Hoon Han, Lubica Dudakova, Kim Rodenburg, Viktória Szabó, Zoltán Zsolt Nagy, Dinah Zur, Marie Vajter, Bohdan Kousal, Alexandre P. Moulin, Alexandra Graff-Meyer, Susanne Roosing, Omar A. Mahroo, Gavin Arno, Andrew R. Webster, Tamar Ben-Yosef, Petra Liskova, Benjamin D. Engel, Ditta Zobor, Mathieu Quinodoz, Carlo Rivolta
The American Journal of Human Genetics, March 2026, Elsevier
DOI: 10.1016/j.ajhg.2026.02.001