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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...

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Detalhes bibliográficos
Publicado no:Indian J Ophthalmol
Main Authors: Kim, Woo Jin, Kim, Jong Ha, Cho, Nam Chun
Formato: Artigo
Idioma:Inglês
Publicado em: Medknow Publications & Media Pvt Ltd 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5369295/
https://ncbi.nlm.nih.gov/pubmed/28300742
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0301-4738.202305
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