Correlation between clinical features and MECP2 gene mutations in patients with Rett syndrome

Conclusions Mutation screening for MECP2 is a fast and reliable method to diagnose patients clinically suspected to suffer from Rett syndrome or female patients with atypical Rett syndrome features, mental retardation, developmental delay and other neurological abnormalities who do not fit any specific diagnosis. Also, patients with MECP2 mutation presented with a more severe phenotype.

Source: Egyptian Pediatric Association Gazette - March 6, 2015 Category: Pediatrics Source Type: research