Associated Papers
Comparative analysis of clinical phenotypes and genetic characteristics in MEF2C-associated neurodevelopmental disorders.
Li X et al.
Seizure, 2026
Genotypes and Phenotypes of MEF2C Haploinsufficiency Syndrome: New Cases and Novel Point Mutations.
Wan L et al.
Frontiers in Pediatrics, 2021
MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome-like Behaviors in Mice.
Harrington AJ et al.
Biological Psychiatry, 2020
Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation.
Wang J et al.
Bmc Medical Genetics, 2018
MEF2C loss-of-function mutation associated with familial dilated cardiomyopathy.
Yuan F et al.
Clinical Chemistry and Laboratory Medicine, 2018
MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.
Rocha H et al.
European Journal of Medical Genetics, 2016
Microdeletion 5q14.3 and anomalies of brain development.
Hotz A et al.
American Journal of Medical Genetics. Part A, 2013
Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus.
Sakai Y et al.
European Journal of Medical Genetics, 2013
Refining the phenotype associated with MEF2C point mutations.
Bienvenu T et al.
Neurogenetics, 2013
The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome.
Zweier M et al.
Molecular Syndromology, 2012
Refining the phenotype associated with MEF2C haploinsufficiency.
Novara F et al.
Clinical Genetics, 2010
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
Zweier M et al.
Human Mutation, 2010
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
Le Meur N et al.
Journal of Medical Genetics, 2010
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