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Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia
Congenital aniridia is a kind of eye disease characterized by complete or partial hypoplasia of the iris and is associated with other ocular anomalies including corneal opacity, glaucoma, and foveal hypoplasia. Heterozygous mutation of paired box 6 (PAX6) gene was identified in most cases of aniridi...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5369295/ https://www.ncbi.nlm.nih.gov/pubmed/28300742 http://dx.doi.org/10.4103/0301-4738.202305 |