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Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family
PURPOSE: This study aimed to characterize an Asian Indian aniridia family for both the phenotype and genotype of the disease for a better clinical management. METHODS: The phenotype and genotype of the affected and unaffected individuals in the aniridia family were evaluated. The subjects underwent...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819101/ https://www.ncbi.nlm.nih.gov/pubmed/29380764 http://dx.doi.org/10.4103/ijo.IJO_311_17 |