INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.
Mascibroda LG, Shboul M, Elrod ND, Colleaux L, Hamamy H, Huang KL, Peart N, Singh MK, Lee H, Merriman B, Jodoin JN, Sitaram P, Lee LA, Fathalla R, Al-Rawashdeh B, Ababneh O, El-Khateeb M, Escande-Beillard N, Nelson SF, Wu Y, Tong L, Kenney LJ, Roy S, Russell WK, Amiel J, Reversade B, Wagner EJ.
Mascibroda LG, et al. Among authors: jodoin jn.
Nat Commun. 2022 Oct 13;13(1):6054. doi: 10.1038/s41467-022-33547-8.
Nat Commun. 2022.
PMID: 36229431
Free PMC article.