A carregar...

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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
Assuntos:
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!