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MECP2 Duplication Syndrome

Since the initial report that clearly established a causal role between duplication of the MECP2 gene and a severe syndromic form of intellectual disability, many new patients have been identified and reported, and the etiology in already published families solved. This has led to the establishment...

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Detalhes bibliográficos
Autor principal: Van Esch, H.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3366699/
https://ncbi.nlm.nih.gov/pubmed/22679399
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000329580
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