Congenital Heart Disease in Cornelia de Lange Syndrome: Phenotype and Genotype Analysis

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...

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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3551981/
https://ncbi.nlm.nih.gov/pubmed/22965847
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35582
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