Cargando…

Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia

Congenital aniridia is a kind of eye disease characterized by complete or partial hypoplasia of the iris and is associated with other ocular anomalies including corneal opacity, glaucoma, and foveal hypoplasia. Heterozygous mutation of paired box 6 (PAX6) gene was identified in most cases of aniridi...

Descripción completa

Detalles Bibliográficos
Autores principales: Kim, Woo Jin, Kim, Jong Ha, Cho, Nam Chun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5369295/
https://www.ncbi.nlm.nih.gov/pubmed/28300742
http://dx.doi.org/10.4103/0301-4738.202305