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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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Detalhes bibliográficos
Main Authors: Schneider, Adele, Bardakjian, Tanya, Reis, Linda M., Tyler, Rebecca C., Semina, Elena V.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
Assuntos:
Acesso em linha: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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