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Novel variants in PAX6 gene caused congenital aniridia in two Chinese families
PURPOSE: To reveal the underlying genetic defect in two four-generation Chinese families with aniridia and explore the pathologic mechanism. METHODS: Full ophthalmic examinations were performed in two families with aniridia. The PAX6 gene was directly sequenced in patients of two families, and the d...
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| Publicado no: | Eye (Lond) |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5518831/ https://ncbi.nlm.nih.gov/pubmed/28157223 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/eye.2016.326 |
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