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early-onset severe retinal dystrophy (EOSRD)

Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
Ke Xu, Yue Xie, Tengyang Sun, Xiaohui Zhang, Chunjie Chen, Yang Li

British Journal of Ophthalmology Jul 2020, 104 (7) 932-937; DOI: 10.1136/bjophthalmol-2019-314281