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

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

Abstract 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...

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Bibliographic Details
Main Authors: Jiaping Wang, Qingping Zhang, Yan Chen, Shujie Yu, Xiru Wu, Xinhua Bao, Yongxin Wen
Format: Article
Language:English
Published: BMC 2018-10-01
Series:BMC Medical Genetics
Subjects:
MEF2C
Rett (−like) syndrome
Non-syndromic intellectual disability
Genotype-phenotype correlation
Online Access:http://link.springer.com/article/10.1186/s12881-018-0699-1

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http://link.springer.com/article/10.1186/s12881-018-0699-1

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