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Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females

✍ Scribed by Marcella Vacca; Francesco Filippini; Alberta Budillon; Valeria Rossi; Grazia Mercadante; Elisa Manzati; Francesca Gualandi; Stefania Bigoni; Cecilia Trabanelli; Giorgio Pini; Elisa Calzolari; Alessandra Ferlini; Ilaria Meloni; Giuseppe Hayek; Michele Zappella; Alessandra Renieri; Michele D'Urso; Maurizio D'Esposito; Fiona MacDonald; Alison Kerr; Seema Dhanjal; Maj Hultén


Publisher
Springer
Year
2000
Tongue
English
Weight
214 KB
Volume
78
Category
Article
ISSN
0946-2716

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Rett Syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which almost exclusively affects girls, with an estimated prevalence of one in 10,000-15,000 female births. Mutations in the methyl CpG binding protein 2 gene (MECP2) have been identified in roughly 75% of classical Rett girls.