A novel mutation of PAX6 in Chinese patients with new clinical features of Peters’ anomaly

PURPOSE: To identify novel mutation in the PAX6 (paired box gene 6) gene and characterize new clinical features of severe ocular malformation in a Chinese patient with Peters’ anomaly. METHODS: A 10-month-old male infant, who presented with corneal opacity and nystagmus, was referred to our pediatri...

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Hlavní autoři: Jia, Xiuhua, Guo, Xiangming, Jia, Xiaoyun, Xiao, Xueshan, Li, Shiqiang, Zhang, Qingjiong
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2010
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2855731/
https://ncbi.nlm.nih.gov/pubmed/20405024
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