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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Bibliografiske detaljer
Udgivet i:Am J Med Genet B Neuropsychiatr Genet
Main Authors: Zhang, Qingping, Zhao, Ying, Bao, Xinhua, Luo, Jinjun, Zhang, Xiaoying, Li, Jiarui, Wei, Liping, Wu, Xiru
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2017
Fag:
Research Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5485058/
https://ncbi.nlm.nih.gov/pubmed/28394482
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.b.32534
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