Early onset non-syndromic retinal degeneration due to variants in INPP5E: phenotypic expansion of the ciliary gene previously associated with Joubert syndrome
Riccardo Sangermano, Iris Deitch, Virginie G. Peter, Rola Ba‐Abbad, Emily Place, Erin Zampaglione, Naomi E. Wagner, Anne B. Fulton, Luisa Coutinho-Santos, Boris Rosin, Vincent Dunet, Alaa AlTalbishi, Eyal Banin, Ana Berta Sousa, Mariana Neves, , Kinga M. Bujakowska
The paper identifies INPP5E variants in non-syndromic retinal degenerations, expanding the known phenotypic spectrum of this ciliary gene.
npj Genomic Medicine · Jun 29, 2021Peer-reviewedGenetic & Genomic Medicine