MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

Methyl-CpG binding protein 2 (MeCP2) is a nuclear protein highly expressed in neurons that is involved in transcriptional modulation and chromatin remodeling. Mutations in MECP2 in females are associated with Rett syndrome, a neurological disorder characterized by a normal neonatal period, followed...

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Detalhes bibliográficos
Publicado no:J Hum Genet
Main Authors: Bianciardi, Laura, Fichera, Marco, Failla, Pinella, Di Marco, Chiara, Grozeva, Detelina, Mencarelli, Maria Antonietta, Spiga, Ottavia, Mari, Francesca, Meloni, Ilaria, Raymond, Lucy, Renieri, Alessandra, Romano, Corrado, Ariani, Francesca
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4770571/
https://ncbi.nlm.nih.gov/pubmed/26490184
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2015.118
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