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简述了脆性X综合征的发病机理、临床特征、遗传特征及其诊断方法 ,着重介绍了脆性X综合征发病机制的分子研究及其产物FMRP生物学功能研究的进展。
The pathogenesis, clinical characteristics, genetic characteristics and diagnosis of Fragile X syndrome were briefly described. The molecular mechanisms of the pathogenesis of Fragile X syndrome and the progress in the biological function of FMRP were also introduced.