Search Results - "Jackson, Laird S."

Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis by 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.

“…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…”
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Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation by Deardorff, Matthew A., Kaur, Maninder, Yaeger, Dinah, Rampuria, Abhinav, Korolev, Sergey, Pie, Juan, Gil-Rodríguez, Concepcion, Arnedo, María, Loeys, Bart, Kline, Antonie D., Wilson, Meredith, Lillquist, Kaj, Siu, Victoria, Ramos, Feliciano J., Musio, Antonio, Jackson, Laird S., Dorsett, Dale, Krantz, Ian D.

“…Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de Lange syndrome (CdLS) and Roberts or SC phocomelia syndrome, respectively…”
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