Article
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
American journal of human genetics - 1 Mar 2007
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
Abstract excerpt
Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de Lange syndrome (CdLS) and Roberts or SC phocomelia syndrome, respectively. Recently, mutations in the cohesin complex structural component SMC1A have been identified in two probands with features of CdLS. Here, we report the identification of a mutation in the gene encoding the complementary subunit of the cohesin heterodimer,...
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