Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis
对171例综合征型遗传性视网膜疾病患者的表型和基因型特征分析凸显了基因检测在准确临床诊断中的重要性
期刊:Genes
影响因子:2.8
doi:10.3390/genes16070745
Kulyamzin, Sofia; Leibu, Rina; Newman, Hadas; Ehrenberg, Miriam; Goldenberg-Cohen, Nitza; Zayit-Soudry, Shiri; Mezer, Eedy; Rotenstreich, Ygal; Deitch, Iris; Panneman, Daan M; Zur, Dinah; Chervinsky, Elena; Shalev, Stavit A; Cremers, Frans P M; Sharon, Dror; Roosing, Susanne; Ben-Yosef, Tamar