Vrečar I, et al. Further clinical delineation of the MEF2C haploinsufficiency syndrome: report on new cases and literature review of severe neurodevelopmental disorders presenting with seizures, absent speech, and involuntary movements. J Pediatr Genet. 2017;6(3):129-141. PMID:28794905.

Tanteles GA, et al. Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: review of the literature. Am J Med Genet A. 2015;167A(3):664-669. PMID:25691421.

Rocha H, et al. MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review. Eur J Med Genet. 2016;59(9):478-82. PMID:27255693.

Zweier M, et al. Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum Mutat. 2010;31(6):722-733. PMID:20513142.

Novara F, et al. MEF2C deletions and mutations versus duplications: A clinical comparison. Eur J Med Genet. 2013;56(5):260-265. PMID:23402836.

Engel H, et al. A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. Eur J Hum Genet. 2009; 17(12):1592-1599. PMID:19471318.

Dong C, et al. Myocyte enhancer factor 2C and its directly-interacting proteins: A review. Prog Biophys Mol Biol. 2017;126:22-30. PMID: 28163053.