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Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family

BACKGROUND: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia, mild dysmorphic features, a broad range of neurodevelo...

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Detalles Bibliográficos
Autores principales:	Li, Xiaoyan, Xie, Hua, Chen, Qian, Yu, Xiongying, Yi, Zhaoshi, Li, Erzhen, Zhang, Ting, Wang, Jian, Zhong, Jianmin, Chen, Xiaoli
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5688748/ https://www.ncbi.nlm.nih.gov/pubmed/29141583 http://dx.doi.org/10.1186/s12881-017-0486-4

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