A Case of Bilateral Microphthalmia and Extensive Colobomas of the Globes Associated with a Likely Pathogenic Homozygous SIX6 Variant
Colobomas of the globe and microphthalmia are congenital conditions that can strongly affect vision. Etiologies are varied and include embryonic and hereditary origins. We report what is, to the best of our knowledge, the first case of a SIX6 gene pathogenic variant associated with a phenotype of bo...
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| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Karger Publishers
2022-10-01
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| coleção: | Case Reports in Ophthalmology |
| Assuntos: | |
| Acesso em linha: | https://www.karger.com/Article/FullText/526545 |
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