Mutation spectrum of PAX6 and clinical findings in 95 Chinese patients with aniridia

PURPOSE: Aniridia is a rare congenital panocular disease caused by mutations in PAX6. The purposes of this study were to clarify the mutation features of PAX6 in a cohort of Chinese patients with aniridia and to describe their clinical characteristics. METHODS: We recruited 95 patients from 65 unrel...

Descripción completa

Detalles Bibliográficos
Autores principales: You, Bing, Zhang, Xiaohui, Xu, Ke, Xie, Yue, Ye, Hanwen, Li, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093334/
https://www.ncbi.nlm.nih.gov/pubmed/32214788

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093334/
https://www.ncbi.nlm.nih.gov/pubmed/32214788

Ejemplares similares