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

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

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...

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Bibliographic Details
Main Authors: Lin Wan, Xinting Liu, Linyan Hu, Huimin Chen, Yulin Sun, Zhichao Li, Zhenfang Wang, Zhi Lin, Liping Zou, Guang Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Pediatrics
Subjects:
MEF2C haploinsufficiency syndrome
trio-based whole-exome sequencing
regression
MOSAIC
MEF2C gene mutations
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.664449/full

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