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Mutation spectrum of PAX6 and clinical findings in 95 Chinese patients with aniridia
PURPOSE: Aniridia is a rare congenital panocular disease caused by mutations in PAX6. The purposes of this study were to clarify the mutation features of PAX6 in a cohort of Chinese patients with aniridia and to describe their clinical characteristics. METHODS: We recruited 95 patients from 65 unrel...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Molecular Vision
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093334/ https://www.ncbi.nlm.nih.gov/pubmed/32214788 |