Association of a Novel Mutation in the Retinol Dehydrogenase 12 (RDH12) Gene With Autosomal Dominant Retinitis Pigmentosa
Author:
Publisher
American Medical Association (AMA)
Subject
Ophthalmology
Cited by 43 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports;Journal of Medical Case Reports;2023-06-02
2. Pseudocoloboma-like maculopathy with biallelicRDH12missense mutations;Journal of Medical Genetics;2023-01-23
3. Macular dystrophies associated with Stargardt-like phenotypes;Arquivos Brasileiros de Oftalmologia;2023
4. Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy;Investigative Opthalmology & Visual Science;2022-08-22
5. RDH12 retinopathy: clinical features, biology, genetics and future directions;Ophthalmic Genetics;2022-05-02
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