Evidence suggests that pathogenic SMARCE1-related CSS act through gain of function. Sequence analysis of the genes associated with the BAF complex is recommended for anyone suspected to have SMARCE1-related CSS.
SMARCE1SMARCE1Evidence suggests that pathogenic SMARCE1-related CSS act through gain of function. Sequence analysis of the genes associated with the BAF complex is recommended for anyone suspected to have SMARCE1-related CSS.