De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation

Xq28 duplications including MECP2 are a well-known cause of severe mental retardation in males with seizures, muscular hypotonia, progressive spasticity, poor speech and recurrent infections that often lead to early death. Female carriers usually show a normal intellectual performance due to skewed...

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Detalhes bibliográficos
Main Authors: Grasshoff, Ute, Bonin, Michael, Goehring, Ina, Ekici, Arif, Dufke, Andreas, Cremer, Kirsten, Wagner, Nicholas, Rossier, Eva, Jauch, Anna, Walter, Michael, Bauer, Claudia, Bauer, Peter, Horber, Karl, Beck-Woedl, Stefanie, Wieczorek, Dagmar
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3083613/
https://ncbi.nlm.nih.gov/pubmed/21326285
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.226
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