Article
Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy.
JAMA ophthalmology - 1 Apr 2015
Liu Xiaoxing, Xiao Jingjing, Huang Hui, Guan Liping, Zhao Kanxing, Xu Qihua, Zhang Xiumei, Pan Xinyuan, Gu Shun, Chen Yanhua, Zhang Jianguo, Shen Yulan, Jiang Hui, Gao Xiang, Kang Xiaoli, Sheng Xunlun, Chen Xue, Zhao Chen
Abstract excerpt
IMPORTANCE: Inherited retinal dystrophies (IRDs) are a group of retinal degenerative diseases presenting genetic and clinical heterogeneities, which have challenged the genetic and clinical diagnoses of IRDs. Genetic evaluations of patients with IRD might result in better clinical assessments and better management of patients. OBJECTIVE: To determine the genetic lesions with phenotypic correlations in patients...
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