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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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Bibliografiske detaljer
Udgivet i:Genes (Basel)
Main Authors: Nieves-Moreno, Maria, Noval, Susana, Peralta, Jesus, Palomares-Bralo, María, del Pozo, Angela, Garcia-Miñaur, Sixto, Santos-Simarro, Fernando, Vallespin, Elena
Format: Artigo
Sprog:Inglês
Udgivet: MDPI 2021
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8151272/
https://ncbi.nlm.nih.gov/pubmed/34065151
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12050707
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