Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation
Yi Zhen, Wenmin Sun, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Xueqing Li, Bilin Yu, Panfeng Wang, Qingjiong Zhang
Topics & Concepts
GUCY2DGeneticsBiologyMissense mutationCompound heterozygosityOphthalmologyFrameshift mutationPhenotypeMedicineGeneGuanylate cyclase 2CGuanylate cyclaseReceptorRetinal Development and DisordersRetinal Diseases and TreatmentsOcular Disorders and Treatments