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- Ana M Cabal-Herrera and Christopher W Beatty.
- Department of Pediatrics, Division of Neurology, Nationwide Children's Hospital - The Ohio State University, USA.
- Medicina (B Aires). 2024 Sep 1; 84 Suppl 3: 454945-49.
AbstractRett Syndrome (RTT) is a neurodevelopment disorder which primarily affects females and is caused by pathogenic variants in the MECP2 gene. The disease has a characteristic developmental regression resulting in impairment of expressive language, hand skills, and ambulation that is accompanied by hand stereotypies. The goal of this article it to provide an overview of the diagnosis, natural history, and treatment.
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