MECP2 and beyond: phenotype-genotype correlations in Rett syndrome.

Abstract excerpt

The association of Rett syndrome with pathogenic mutations of the methyl-CpG binding protein 2 (MECP2) gene was first made in 1999. Since that time, it has been found that the clinical phenotype can, at least in part, be explained in terms of the type and location of the MECP2 mutation and epigen...

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