title: Late-onset CORD in a patient with RDH12 mutations identified by whole exome sequencing.
authors: a State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University , Guangzhou , China.
authors: Wei
authors: W
authors: Xin
authors: a State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University , Guangzhou , China.
authors: Xueshan
authors: X
authors: Xiao
authors: a State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University , Guangzhou , China.
authors: Shiqiang
authors: S
authors: Li
authors: a State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University , Guangzhou , China.
authors: Qingjiong
authors: Q
authors: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D000429:Alcohol Oxidoreductases / Q000235:genetics*; D002648:Child; D002874:Chromosome Mapping; D000071700:Cone-Rod Dystrophies / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D004596:Electroretinography; D059472:Exome / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D012160:Retina / Q000502:physiology; D017422:Sequence Analysis, DNA; D041623:Tomography, Optical Coherence
chemical_list: D000429:Alcohol Oxidoreductases; C489649:RDH12 protein, human