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文献评审日期:2022-08-18
1. Hagerman R.J., Hagerman P.J. Testing for fragile X gene mutations throughout the life span. JAMA. 2008;300:2419–2421. doi: 10.1001/jama.2008.684.
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感谢以下医疗从业者参与贡献
排序不分先后
2012 FXCRC临床实践共识:脆性X综合征患者的药物治疗
2015 EMQN最佳实践指南:脆性X综合征和其他脆性X相关性疾病的分子基因检测和报告
脆性X综合征携带者筛查遗传咨询专家共识