An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype
Cornelia de Lange syndrome (CdLS, OMIM #122470, #300590, #300882, #610759, and #614701) is a rare congenital disorder that affects the development of multiple organs and is characterized by physical abnormalities and cognitive and behavioral disabilities.Its molecular basis is mainly based on alterations in genes encoding 700C structural and regula