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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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Détails bibliographiques
Publié dans:Genes (Basel)
Auteurs principaux: Nieves-Moreno, Maria, Noval, Susana, Peralta, Jesus, Palomares-Bralo, María, del Pozo, Angela, Garcia-Miñaur, Sixto, Santos-Simarro, Fernando, Vallespin, Elena
Format: Artigo
Langue:Inglês
Publié: MDPI 2021
Sujets:
Accès en ligne: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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