Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review

BACKGROUND: Stickler syndrome is the most common genetic cause of rhegmatogenous retinal detachment (RRD) in children, and has a high risk of blindness. Type I (STL1) is the most common subtype, caused by COL2A1 mutations. This study aims to analyze the mutation spectrum of COL2A1 and further elucid...

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Detalles Bibliográficos
Autores principales: Wang, Dan-Dan, Gao, Feng-Juan, Hu, Fang-Yuan, Zhang, Sheng-Hai, Xu, Ping, Wu, Ji-Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7008542/
https://www.ncbi.nlm.nih.gov/pubmed/32039712
http://dx.doi.org/10.1186/s12881-020-0963-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7008542/
https://www.ncbi.nlm.nih.gov/pubmed/32039712
http://dx.doi.org/10.1186/s12881-020-0963-z

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