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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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Dades bibliogràfiques
Publicat a:Indian J Ophthalmol
Autors principals: Kim, Woo Jin, Kim, Jong Ha, Cho, Nam Chun
Format: Artigo
Idioma:Inglês
Publicat: Medknow Publications & Media Pvt Ltd 2017
Matèries:
Accés en línia: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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