Literature DB >> 26848971

Late-onset CORD in a patient with RDH12 mutations identified by whole exome sequencing.

Wei Xin1, Xueshan Xiao1, Shiqiang Li1, Qingjiong Zhang1.   

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Year:  2016        PMID： 26848971     DOI： 10.3109/13816810.2015.1059457

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN： 1381-6810            Impact factor:   1.803


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  3 in total

Review 1.  Retinol Dehydrogenases Regulate Vitamin A Metabolism for Visual Function.

Authors:  Bhubanananda Sahu; Akiko Maeda
Journal:  Nutrients       Date:  2016-11-22       Impact factor: 5.717

2.  Expanding the phenotypic spectrum in RDH12-associated retinal disease.

Authors:  Hilary A Scott; Emily M Place; Kevin Ferenchak; Erin Zampaglione; Naomi E Wagner; Katherine R Chao; Stephanie P DiTroia; Daniel Navarro-Gomez; Shizuo Mukai; Rachel M Huckfeldt; Eric A Pierce; Kinga M Bujakowska
Journal:  Cold Spring Harb Mol Case Stud       Date:  2020-02-03

3.  Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.

Authors:  Junwen Wang; Yingwei Wang; Shiqiang Li; Xueshan Xiao; Zhen Yi; Yi Jiang; Xueqing Li; Xiaoyun Jia; Panfeng Wang; Chenjin Jin; Wenmin Sun; Qingjiong Zhang
Journal:  Invest Ophthalmol Vis Sci       Date:  2022-08-02       Impact factor: 4.925
  3 in total

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