A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus

被引：0
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作者：
Tianwei Qian
Chong Chen
Caihua Li
Qiaoyun Gong
Kun Liu
Gao Wang
Isabelle Schrauwen
Xun Xu
机构：
[1] Shanghai Jiao Tong University,Department of Ophthalmology, Shanghai General Hospital
[2] National Clinical Research Center for Eye Diseases,Department of Neurology
[3] Shanghai Key Laboratory of Ocular Fundus Diseases,undefined
[4] Shanghai Engineering Center for Visual Science and Photomedicine,undefined
[5] Shanghai Engineering Center for Precise Diagnosis and Treatment of Eye Disease,undefined
[6] Columbia University Medical Center,undefined
[7] Singapore Eye Research Institute,undefined
[8] Singapore National Eye Centre,undefined
[9] Genesky Biotechnologies Inc,undefined
来源：
BMC Ophthalmology | / 21卷
关键词：
Congenital aniridia; PAX6; Deletion; Copy number variant;
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学科分类号：
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