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Rett syndrome (RTT) is a neurodevelopmental disorder that mainly affects girls who, after an initial period of normal development, experience developmental regression leading to loss of speech and purposeful hand use and the emergence of characteristic stereotypic hand movements.

Most children with Rett syndrome carry mutations in the gene encoding methyl-CpG-binding protein 2 (MECP2), which is ubiquitously expressed in the body and in particularly high proportions in the brain. MECP2, located on the X chromosome at Xq28, is a transcription regulator gene affecting many genes downstream. How mutations in MECP2 lead to the clinical RTT phenotype has not yet been established.

Rett syndrome is found across all ethnic and racial groups. The prevalence of classic RTT is estimated to be 4 to 7 per 100,000 people. RTT ...

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