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The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye
The transcription factor PAX6 is essential in ocular development in vertebrates, being considered the master regulator of the eye. During eye development, it is essential for the correct patterning and formation of the multi-layered optic cup and it is involved in the developing lens and corneal epi...
Autores principales: | Lima Cunha, Dulce, Arno, Gavin, Corton, Marta, Moosajee, Mariya |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947179/ https://www.ncbi.nlm.nih.gov/pubmed/31861090 http://dx.doi.org/10.3390/genes10121050 |
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