Rett Syndrome: A Timely Review From Recognition to Current Clinical Approaches and Clinical Study Updates.

Abstract excerpt

Since the discovery of the genetic basis of Rett syndrome in 1999, our understanding has grown considerably both in the scientific and the clinical realms. In the last two decades, we have learned about the far-reaching effects of the aberrant MeCP2 protein, the growing list of involved genetic factors, and the genotype-phenotype clinical expression of common MECP2 mutations. This knowledge has led to several...

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