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Congenital aniridia: etiology, manifestations and management
Congenital aniridia manifests as total or partial absence of the iris caused most commonly by mutations in PAX6, FOXC1, PITX2, and CYP1B1. Recently two new genes, FOXD3 and TRIM44, have also been implicated in isolated studies. We discuss the genotype-phenotype correlations for the main implicated g...
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| Publicado no: | Expert Rev Ophthalmol |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6086384/ https://ncbi.nlm.nih.gov/pubmed/30100922 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1586/17469899.2016.1152182 |
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