Associated Papers
Comparative analysis of clinical phenotypes and genetic characteristics in MEF2C-associated neurodevelopmental disorders.
Li X et al.
Seizure, 2026
Comprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic review.
Cooley Coleman JA et al.
American Journal of Medical Genetics. Part A, 2021
The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function.
Gordon CT et al.
Clinical Genetics, 2018
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