Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy.
C19orf44 中的双等位基因无效变异会导致一种独特的迟发性视网膜营养不良表型，其特征是斑片状中心凹周围脉络膜视网膜萎缩
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2025.101401
Ehrenberg Miriam, Avraham Maayan, Asodu Sandeep Sarma, Moye Abigail R, Sangermano Riccardo, Rizel Leah, Ali-Nasser Tahleel, Sher Ifat, Gurwitz David, Chao Katherine R, Rivera Antonio, Webster Andrew R, Rivolta Carlo, Newman Hadas, Pras Eran, Rotenstreich Ygal, Banin Eyal, Pierce Eric A, Zur Dinah, Arno Gavin, Bujakowska Kinga M, Lin Siying, Sharon Dror, Ben-Yosef Tamar
