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Novel SOX2 Mutations and Genotype-Phenotype Correlation in Anophthalmia and Microphthalmia
SOX2 represents a High Mobility Group domain containing transcription factor that is essential for normal development in vertebrates. Mutations in SOX2 are known to result in a spectrum of severe ocular phenotypes in humans, also typically associated with other systemic defects. Ocular phenotypes in...
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| Autores principales: | , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2009
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2787970/ https://ncbi.nlm.nih.gov/pubmed/19921648 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33098 |
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