Expanding the Phenotypic Spectrum of <i>PAX6</i> Mutations: From Congenital Cataracts to Nystagmus

Expanding the Phenotypic Spectrum of <i>PAX6</i> 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 <i>PAX6</i> gene. The clinical phenotype of <i>PAX6</i> mutations is highly variable, making the genotype–phenotype correlation...

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Bibliographic Details
Main Authors: Maria Nieves-Moreno, Susana Noval, Jesus Peralta, María Palomares-Bralo, Angela del Pozo, Sixto Garcia-Miñaur, Fernando Santos-Simarro, Elena Vallespin
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Genes
Subjects:
<i>PAX6</i>
aniridia
congenital cataracts
nystagmus
Online Access:https://www.mdpi.com/2073-4425/12/5/707

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