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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Atrophy and RDH12[original query]
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
American journal of human genetics 2004 Oct 75 (4): 639-46.
Perrault Isabelle, Hanein Sylvain, Gerber Sylvie, Barbet Fabienne, Ducroq Dominique, Dollfus Helene, Hamel Christian, Dufier Jean-Louis, Munnich Arnold, Kaplan Josseline, Rozet Jean-Mich
Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.
Ophthalmic genetics 2021 5 42 (4): 392-401.
Zhu Luyao, Ouyang Wangbin, Zhang Minfang, Wang Hao, Li Shiying, Meng Xiaohong, Yin Zheng Q
Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.
Investigative ophthalmology & visual science 2022 8 63 (9): 24.
Wang Junwen, Wang Yingwei, Li Shiqiang, Xiao Xueshan, Yi Zhen, Jiang Yi, Li Xueqing, Jia Xiaoyun, Wang Panfeng, Jin Chenjin, Sun Wenmin, Zhang Qingjio
Clinical and genetic characterization of RDH12-retinal dystrophy in a South American cohort.
Ophthalmology. Retina 2023 9 .
Malena Daich Varela, Rene Moya, Rebeca Azevedo Souza Amaral, Patricio G Schlottmann, Alejandro Álvarez Mendiara, Aníbal Francone, Rosane Guazi Resende, Luciana Capalbo, Nancy Gelvez, Greizy López, Ana M Morales-Acevedo, Rafael H Ossa, Gavin Arno, Michel Michaelides, Martha L Tamayo, Juliana Maria Ferraz Sall
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