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3 Result(s)
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Article
Novel variants in PAX6 gene caused congenital aniridia in two Chinese families
To reveal the underlying genetic defect in two four-generation Chinese families with aniridia and explore the pathologic mechanism.
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Article
Erratum: A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family
Correction to: Eye (2014); 28: 1364–1369; doi:10.1038/eye.2014.196; published online 29 August 2014 Since the online publication of this article, the authors have noticed that the email address given for the s...
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Article
A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family
X-linked juvenile retinoschisis (XLRS), a leading cause of juvenile macular degeneration, is characterized by a spoke-wheel pattern in the macular region of the retina and splitting of the neurosensory retina....
