Genotypes and Phenotypes of MEF2C Haploinsufficiency Syndrome: New Cases and Novel Point Mutations

• Main Authors: Lin Wan (Author), Xinting Liu (Author), Linyan Hu (Author), Huimin Chen (Author), Yulin Sun (Author), Zhichao Li (Author), Zhenfang Wang (Author), Zhi Lin (Author), Liping Zou (Author), Guang Yang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Aim: MEF2C haploinsufficiency syndrome (MCHS) is a severe neurodevelopmental disorder. We describe the clinical phenotypes and genotypes of seven patients with MCHS to enhance the understanding of clinical manifestations and genetic alterations associated with MCHS.Method: Seven patients (6 females...