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MECP2duplication phenotype in symptomatic females: report of three further cases

✍ Scribed by Novara, Francesca; Simonati, Alessandro; Sicca, Federico; Battini, Roberta; Fiori, Simona; Contaldo, Annarita; Criscuolo, Lucia; Zuffardi, Orsetta; Ciccone, Roberto

Book ID
121550338
Publisher
BioMed Central
Year
2014
Tongue
English
Weight
413 KB
Volume
7
Category
Article
ISSN
1755-8166

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## Communicated by Garry Cutting Mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2) are found in 70-80% of cases of classical Rett syndrome (RTT) and in about 50% of cases of preserved speech variant (PSV). This high percentage of MECP2 mutations, especially in classical RTT cases