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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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Li, Xiaoyan, Xie, Hua, Chen, Qian, Yu, Xiongying, Yi, Zhaoshi, Li, Erzhen, Zhang, Ting, Wang, Jian, Zhong, Jianmin, Chen, Xiaoli
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5688748/
https://ncbi.nlm.nih.gov/pubmed/29141583
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0486-4
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