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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Detalles Bibliográficos
Autores principales: Huang, Li, Chen, Chonglin, Wang, Zhirong, Sun, Limei, Li, Songshan, Zhang, Ting, Luo, Xiaoling, Ding, Xiaoyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7464315/
https://www.ncbi.nlm.nih.gov/pubmed/32756486
http://dx.doi.org/10.3390/genes11080882

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