Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review
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...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
BMC,
2020-02-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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