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

• Main Authors: Dan-Dan Wang (Author), Feng-Juan Gao (Author), Fang-Yuan Hu (Author), Sheng-Hai Zhang (Author), Ping Xu (Author), Ji-Hong Wu (Author)
• Format: Book
• Published: BMC, 2020-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 furthe...