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Adult Phenotype of CHD2-Associated Disorders by Carlitos Strapazoli is a document available to read on EtoBox.
What is Adult Phenotype of CHD2-Associated Disorders about?
This study investigates the adult phenotype of patients with pathogenic CHD2 variants, revealing that most adults continue to experience seizures and associated comorbidities such as behavioral issues and gastrointestinal problems. The cohort consisted of 14 adults aged 18-45, with a high prevalence of autism spectrum disorder and ongoing seizures in 79% of participants. The findings highlight the need for further research on the natural history and management of CHD2-associated disorders in adults.
- Author
- Carlitos Strapazoli
- Language
- EN