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Familial cases and male cases with MECP2 mutations

This is the first report of Chinese familial cases with Rett syndrome (RTT) or X‐linked mental retardation (XLMR). RTT is a neurodevelopmental disorder that almost exclusively affects females. Most RTT cases are sporadic. We have studied eight cases with MECP2 mutations in six Chinese families, incl...

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Detalles Bibliográficos
Autores principales:	Zhang, Qingping, Zhao, Ying, Bao, Xinhua, Luo, Jinjun, Zhang, Xiaoying, Li, Jiarui, Wei, Liping, Wu, Xiru
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5485058/ https://www.ncbi.nlm.nih.gov/pubmed/28394482 http://dx.doi.org/10.1002/ajmg.b.32534

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