Extended spectrum of MBD5 mutations in neurodevelopmental disorders

Intellectual disability (ID) is a clinical sign reflecting diverse neurodevelopmental disorders that are genetically and phenotypically heterogeneous. Just recently, partial or complete deletion of methyl-CpG-binding domain 5 (MBD5) gene has been implicated as causative in the phenotype associated w...

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Detalhes bibliográficos
Main Authors: Bonnet, Céline, Ali Khan, Asma, Bresso, Emmanuel, Vigouroux, Charlène, Béri, Mylène, Lejczak, Sarah, Deemer, Bénédicte, Andrieux, Joris, Philippe, Christophe, Moncla, Anne, Giurgea, Irina, Devignes, Marie-Dominique, Leheup, Bruno, Jonveaux, Philippe
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2013
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3831065/
https://ncbi.nlm.nih.gov/pubmed/23422940
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.22
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