A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome

被引：0
|
作者：
Qian Wang
Cong Wang
Wen Bin Wei
Wei Ning Rong
Xiang Yu Shi
机构：
[1] Capital Medical University,Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology and Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Laboratory of the Ministry of Industry and Informat
[2] Third Clinical Medical College of Ningxia Medical University,Ningxia Eye Hospital, People’s Hospital of Ningxia Hui Autonomous Region
来源：
BMC Medical Genomics | / 15卷
关键词：
Glaucoma; Rubinstein–Taybi syndrome; CREBBP mutation; Phenotype;
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