Publications by authors named "Sergei V Bochenkov"
Neurogenetics
November 2024
Article Synopsis
- Autism spectrum disorders (ASDs) are neurodevelopmental disorders marked by social interaction challenges and repetitive behaviors, often seen alongside other conditions like intellectual disability and ADHD.
- Pathogenic variants in the CHD8 gene are among the identified genetic causes of ASDs, influencing brain development and cellular growth during embryogenesis.
- A study found significant CHD8 variants in 6 children and 1 adult, revealing unusual symptoms like hepatomegaly and cardiovascular issues, indicating the need for further research on CHD8's complex interactions with other proteins.
