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OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype
The OTX2 homeobox-containing transcription factor gene was shown to play a key role in the development of head structures in vertebrates. In humans, OTX2 mutations result in anophthalmia/microphthalmia (A/M) often associated with systemic anomalies. We screened fifty-two unrelated individuals affect...
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| Autores principales: | , , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2011
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3017659/ https://ncbi.nlm.nih.gov/pubmed/20486942 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2010.01450.x |
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