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Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract
Congenital aniridia is a rare genetic disorder characterized by a variable degree of hypoplasia or absence of iris. It is frequently associated with keratopathy, cataract, juvenile-onset glaucoma and foveal and optic nerve hypoplasia. Mutations in the Paired Box 6 (PAX6) gene on chromosome 11p13 hav...
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| 出版年: | Mol Med Rep |
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| 主要な著者: | , , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
D.A. Spandidos
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6172400/ https://ncbi.nlm.nih.gov/pubmed/30221735 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2018.9469 |
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