Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

Matthew A. Deardorff(Children's Hospital of Philadelphia), Maninder Kaur(Children's Hospital of Philadelphia), Dinah Yaeger(Children's Hospital of Philadelphia), Abhinav Rampuria(Children's Hospital of Philadelphia), Sergey Korolev(Saint Louis University), Juan Pié(Universidad de Zaragoza), Concepcion Gil-Rodríguez(Universidad de Zaragoza), María Arnedo(Universidad de Zaragoza), Bart Loeys(Ghent University Hospital), Antonie D. Kline(Institute of Human Genetics), Meredith Wilson(Children's Hospital at Westmead), K Lillquist(Regionshospital Nordjylland), Victoria Mok Siu(Children's Hospital of Western Ontario), Feliciano J. Ramos(Universidad de Zaragoza), Antonio Musio(Institute of Biomedical Technologies), Laird Jackson(Drexel University), Dale Dorsett(Saint Louis University), Ian D. Krantz(Children's Hospital of Philadelphia)
The American Journal of Human Genetics
February 5, 2007
Cited by 522Open Access
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