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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Am J Med Genet B Neuropsychiatr Genet
Egile Nagusiak: Zhang, Qingping, Zhao, Ying, Bao, Xinhua, Luo, Jinjun, Zhang, Xiaoying, Li, Jiarui, Wei, Liping, Wu, Xiru
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2017
Gaiak:
Research Articles
Sarrera elektronikoa: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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