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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...

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Detalles Bibliográficos
Autores principales: Lima Cunha, Dulce, Arno, Gavin, Corton, Marta, Moosajee, Mariya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
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