Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

Loss-of-function mutations of the MECP2 gene at Xq28 are associated with Rett syndrome in females and with syndromic and nonsyndromic forms of mental retardation (MR) in males. By array comparative genomic hybridization (array-CGH), we identified a small duplication at Xq28 in a large family with a...

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Main Authors: Van Esch, Hilde , Bauters, Marijke , Ignatius, Jaakko , Jansen, Mieke , Raynaud, Martine , Hollanders, Karen , Lugtenberg, Dorien , Bienvenu, Thierry , Jensen, Lars Riff , Gécz, Jozef , Moraine, Claude , Marynen, Peter , Fryns, Jean-Pierre , Froyen, Guy 
Formato: Artigo
Idioma:English
Publicado em: American Society of Human Genetics 2005
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226209/
https://ncbi.nlm.nih.gov/pubmed/16080119
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https://ncbi.nlm.nih.gov/pmc/articles/PMC1226209/
https://ncbi.nlm.nih.gov/pubmed/16080119

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