Biallelic null variants in C19orf44 cause a unique late onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy

• DOI: 10.1016/j.gim.2025.101401
• Publication Date: 2025-03-10T17:04:41Z
• Authors: Miriam Ehrenberg; Maayan Avraham; Sandeep Sarma Asodu; Abigail R. Moye; Riccardo Sangermano; Leah Rizel; Tahleel Ali-Nasser; Ifat Sher; David Gurwitz; Katherine R. Chao; Antonio Rivera; Andrew R. Webster; Carlo Rivolta; Hadas Newman; Eran Pras; Ygal Rotenstreich; Eyal Banin; Eric A. Pierce; Dinah Zur; Gavin Arno; Kinga M. Bujakowska; Siying Lin; Dror Sharon; Tamar Ben-Yosef