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

• Main Authors: Jiaping Wang (Author), Qingping Zhang (Author), Yan Chen (Author), Shujie Yu (Author), Xiru Wu (Author), Xinhua Bao (Author), Yongxin Wen (Author)
• Format: Book
• Published: BMC, 2018-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...