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Article

Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families

Stargardt disease (STGD1) is a juvenile macular degeneration predominantly inherited in an autosomal recessive pattern, characterized by decreased central vision in the first 2 decades of life. The condition h...

Bing Lin, Xue-Bi Cai, Zhi-Li Zheng, **u-Feng Huang, **ao-Ling Liu… in Scientific Reports (2016)