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MECP2 duplication syndrome in a Chinese family

BACKGROUND: Methyl-CpG-binding protein 2 (MeCP2) is a key transcriptional regulator of gene expression in the maintenance and development of the central nervous system. Loss- or gain-function of this gene may contribute to neurodevelopmental disorders. The aim of this study is to delineate the clini...

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Detalles Bibliográficos
Autores principales: Zhang, Qingping, Zhao, Ying, Yang, Yanling, Bao, Xinhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4682232/
https://www.ncbi.nlm.nih.gov/pubmed/26672597
http://dx.doi.org/10.1186/s12881-015-0264-0