Article
MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology - 1 Jan 2003
Bourdon Violaine, Philippe Christophe, Martin Dominique, Verloès Alain, Grandemenge Agnès, Jonveaux Philippe
Abstract excerpt
BACKGROUND: Among the well characterized X-linked conditions causing mental retardation, mutations in the methyl-CpG-binding protein 2 gene (MECP2) in Xq28 have been found in up to 85% of patients with Rett syndrome, a neurologic disorder which, in addition to other symptoms, severely affects higher cognitive functions in females. Mutations in the MECP2 gene are involved in a broad spectrum of phenotypes from...
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