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Rett syndrome
The syndrome was first described by Andreas Rett in 1966. Since the discovery of mutations in the methyl-CpG binding protein-2 (MECP2) gene in Rett Syndrome (RTT) a large number of females have been diagnosed worldwide [1]
- ↑ http://www.researchgate.net/profile/Franco_Laccone/publication/12502656_Rett_syndrome_analysis_of_MECP2_and_clinical_characterization_of_31_patients/links/0deec52b3581550f63000000.pdf Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients