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Novel MEF2C point mutations in Chinese patients with Rett (−like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation

BACKGROUND: MEF2C (Myocyte-specific enhancer factor 2C) has been associated with neurodevelopmental disorders. This study aimed at delineating the clinical profiles of MEF2C gene mutations. METHODS: In total, 112 Chinese patients with intellectual disability (ID) were recruited, including 44 patient...

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Bibliographische Detailangaben
Veröffentlicht in:BMC Med Genet
Hauptverfasser: Wang, Jiaping, Zhang, Qingping, Chen, Yan, Yu, Shujie, Wu, Xiru, Bao, Xinhua, Wen, Yongxin
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2018
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6208086/
https://ncbi.nlm.nih.gov/pubmed/30376817
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0699-1
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