Article
Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis.
American journal of medical genetics. Part A - 1 Oct 2012
Chatfield Kathryn C, Schrier Samantha A, Li Jennifer, Clark Dinah, Kaur Maninder, Kline Antonie D, Deardorff Matthew A, Jackson Laird S, Goldmuntz Elizabeth, Krantz Ian D
Abstract excerpt
Congenital heart disease (CHD) has been reported to occur in 14-70% of individuals with Cornelia de Lange syndrome (CdLS, OMIM 122470) and accounts for significant morbidity and mortality when present. Charts from a cohort of 479 patients with CdLS were reviewed for cardiac evaluations, gene testing and information to determine phenotypic severity. Two hundred fifty-nine individuals had either documented...
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