Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment

Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment

Stickler syndrome is a connective tissue disorder that affects multiple systems, including the visual system. Seven genes were reported to cause Stickler syndrome in patients with different phenotypes. In this study, we aimed to evaluate the mutation features of the phenotypes of high myopia and ret...

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Bibliographic Details
Main Authors: Li Huang, Chonglin Chen, Zhirong Wang, Limei Sun, Songshan Li, Ting Zhang, Xiaoling Luo, Xiaoyan Ding
Format: Article
Language:English
Published: MDPI AG 2020-08-01
Series:Genes
Subjects:
Stickler syndrome
high myopia
retinal detachment
de novo mutations
<i>COL2A1</i>
<i>COL11A1</i>
Online Access:https://www.mdpi.com/2073-4425/11/8/882

Internet

https://www.mdpi.com/2073-4425/11/8/882

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