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Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation

✍ Scribed by Gaëtan Lesca; Virginie Bernard; Muriel Bozon; Renaud Touraine; Daniel Gérard; Patrick Edery; Alain Calender


Book ID
116433028
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
120 KB
Volume
50
Category
Article
ISSN
1769-7212

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Mutations in the methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome, a severe neurodevelopmental disorder occurring predominantly in females. Male patients with Rett syndrome are extremely rare, as the Rett-causing mutations in the MECP2 gene are usually lethal in hemizygous males. However, di