Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus

Background: Congenital aniridia is a complex ocular disorder, usually associated with severe visual impairment, generally caused by mutations on the PAX6 gene. The clinical phenotype of PAX6 mutations is highly variable, making the genotype–phenotype correlations difficult to establish. Methods: we...

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Detalles Bibliográficos
Autores principales: Nieves-Moreno, Maria, Noval, Susana, Peralta, Jesus, Palomares-Bralo, María, del Pozo, Angela, Garcia-Miñaur, Sixto, Santos-Simarro, Fernando, Vallespin, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151272/
https://www.ncbi.nlm.nih.gov/pubmed/34065151
http://dx.doi.org/10.3390/genes12050707

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151272/
https://www.ncbi.nlm.nih.gov/pubmed/34065151
http://dx.doi.org/10.3390/genes12050707

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