Cornelia de Lange syndrome: Congenital heart disease in 149 patients
AA Casas, BP Uriol, MET Rodrigo, MH Marcos… - … Clínica (English Edition), 2017 - Elsevier
Abstract Introduction Cornelia de Lange syndrome (CdLS) is produced by mutations in
genes that encode regulatory or structural proteins of the cohesin complex. Congenital heart
disease (CHD) is not a major criterion of the disease, but it affects many individuals. The
objective of this study was to study the incidence and type of CHD in patients with CdLS.
Material and method Cardiological findings were evaluated in 149 patients with CdLS and
their possible relationship with clinical and genetic variables. Results A percentage of 34.9 …
genes that encode regulatory or structural proteins of the cohesin complex. Congenital heart
disease (CHD) is not a major criterion of the disease, but it affects many individuals. The
objective of this study was to study the incidence and type of CHD in patients with CdLS.
Material and method Cardiological findings were evaluated in 149 patients with CdLS and
their possible relationship with clinical and genetic variables. Results A percentage of 34.9 …
