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What is SETD1B Syndrome: Molecular Insights about?

This study investigates the SETD1B-related syndrome by characterizing a cohort of 36 individuals with pathogenic SETD1B variants, revealing a core clinical phenotype of developmental delays, language regression, intellectual disability, and variable epilepsy. The findings suggest a loss-of-function mechanism for SETD1B variants, with a notable male predominance among affected individuals. The insights gained will aid in counseling newly diagnosed patients regarding the molecular and phenotypic landscape of

Author

bismilah.sukses.lankz64

Language

EN