De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia

被引：0
作者：
Xiaoyu Huang
Xue Rui
Shuang Zhang
Xiaolong Qi
Weining Rong
Xunlun Sheng
机构：
[1] Ningxia Medical University,Clinical Medical College
[2] Wenzhou Medical University,Eye Hospital, School of Optometry and Ophthalmology
[3] Ningxia Eye Hospital,Department of Ophthalmology
[4] People’s Hospital of Ningxia Hui Autonomous Region,undefined
[5] Third Clinical Medical College of Ningxia Medical University,undefined
[6] Gansu Aier Ophthalmology and Optometry Hospital,undefined
[7] Ningxia Eye Hospital,undefined
[8] People’s Hospital of Ningxia Hui Autonomous Region,undefined
[9] Third Clinical Medical College of Ningxia Medical University,undefined
[10] Gansu Aier Ophthalmology and Optometry Hospital,undefined
来源：
BMC Medical Genomics | / 16卷
关键词：
gene; Early onset high myopia; Phenotype; Rubinstein-Taybi syndrome 2;
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