Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract

Congenital aniridia is a rare genetic disorder characterized by a variable degree of hypoplasia or absence of iris. It is frequently associated with keratopathy, cataract, juvenile-onset glaucoma and foveal and optic nerve hypoplasia. Mutations in the Paired Box 6 (PAX6) gene on chromosome 11p13 hav...

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Veröffentlicht in:Mol Med Rep
Hauptverfasser: Lin, Ying, Gao, Hongbin, Zhu, Yi, Chen, Chuan, Li, Tao, Liu, Bingqian, Lyu, Cancan, Huang, Ying, Li, Haichun, Wu, Qingxiu, Jin, Chenjin, Liang, Xiaoling, Huang, Xinhua, Lu, Lin
Format: Artigo
Sprache:Inglês
Veröffentlicht: D.A. Spandidos 2018
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6172400/
https://ncbi.nlm.nih.gov/pubmed/30221735
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2018.9469
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