A novel CEP290 disease-causing variant identified in a patient with leber congenital amaurosis using a medical diagnostic panel sequencing

Chen, BB; Zhai, Y; Huo, YN; Yang, S; Zhang, ZY

Zhang, ZY (通讯作者)，Zhejiang Univ, Sch Med, Affiliated Hosp 2, Eye Ctr, Hangzhou 310009, Zhejiang, Peoples R China.

OPHTHALMIC GENETICS, 2022; 43 (1): 97

Abstract

Background This study aims to identify the underlying genetic cause of a Chinese patient with Leber congenital amaurosis (LCA). Methods Detailed clini......

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